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Human Mutation - 2000

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An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1)
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients ✓ Finnish
Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1)
Human beta defensin 1 gene: Six new variants
Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families ✓ Danish
Identification of a novel missense mutation L329I in the episodic ataxia type 1 geneKCNA1?A challenging problem
A novel germline mutation, P48T, in theCDKN2A/p16 gene in a patient with pancreatic carcinoma
Genetic variation in ICF syndrome: Evidence for genetic heterogeneity
Novel thymidylate synthase enhancer region alleles in African populations ✓ African populations
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
Five novel mutations in fourteen patients with Fabry disease
Phenylketonuria and hyperphenylalaninemia in eastern Germany: A characteristic molecular profile and 15 novel mutations
A novel DNA polymorphism (4886C>T) in the human LCAT gene
?-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes
The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant?
Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome
An R223P mutation in EXT2 gene causes hereditary multiple exostoses
Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in thePROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variant
C283Y mutation and other C‐terminal nucleotide changes in the γ‐sarcoglycan gene in the Bulgarian Gypsy population ✓ Bulgarian Gypsy population
Analysis of the humanKCNH2(HERG) gene: Identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion
A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male
Phenotype‐genotype relationships in <i>PEX10</i> ‐deficient peroxisome biogenesis disorder patients
A novel Sta glycophorin produced via gene conversion of pseudoexon III from glycophorin E to glycophorin A gene
Exhaustive mutation analysis of theNF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
Identification of four single nucleotide polymorphisms in DNA repair genes:XPA andXPB(ERCC3) in Polish population Polish population
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1
DNA 2000: International Symposium on the State-of-the-Art in Genetic Analysis, June 1-3, 2000, Boston, U.S.A.
Allelic imbalance ofBRCA1transcript in the IVS20 12-bp insertion carrier
Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families ✓ Scandinavian families
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography
Wiskott Aldrich Syndrome in an Israeli family: Identification of a novel G40V mutation
Mutations in the LMNA gene encoding lamin A/C
Mutational analyses ofBRCA1 andBRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer ✓ Ashkenazi; non-Ashkenazi Jewish
Evaluation of DHPLC analysis in mutational scanning ofNotch3, a gene with a high G-C content
Polymorphisms in a pseudogene highly homologous to PMS2
Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: Identification of 3 novel polymorphisms and haplotype definition
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria
Identification of a new polymorphism (c134G&gt;A) in the exon 2 of the myelin protein zero gene
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described
Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area
Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNALys gene
Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene
A new polymorphism (N21D) in the exon 2 of the human MDR1 gene encoding the P-glycoprotein
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects
Identification of a novel mutation (c279delC) and a polymorphism (c291C&gt;G) in the von Hippel-Lindau gene in Italian patients ✓ Italian patients
Activating and inactivating mutations in the human GNAS1 gene
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency Syndrome
Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A&gt;G; IVS11-2A&gt;G; L78833, 37698, A&gt;G
A new frameshift mutation at codon 466 (1397delA) within the LMNA gene
Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome
Comparative sequence analysis (CSA): A new sequence-based method for the identification and characterization of mutations in DNA
Six novelMEN1 gene mutations in sporadic parathyroid tumors
A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis
Identification of a novel mutation C144F in the notch3 gene in an Australian CADASIL pedigree
BTK mutations in patients with X-linked agammaglobulinemia: Lack of correlation between presence of peripheral B lymphocytes and specific mutations
Identification ofP gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
Mutation detection by TaqMan-allele specific amplification: Application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency
A variation in theHindIII restriction pattern of the dystrophin gene DMD with cDMD probe 11-14
Mutations in the X-linked pyruvate dehydrogenase (E1) ? subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia
IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate geneGALNT3 ✓ Danish
Various AGC repeat numbers in the coding region of the human transcription factor geneE2F-4
The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency
Screening for mutations in the peripheral myelin genesPMP22,MPZ andCx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients ✓ Russian
Detection of two novel large deletions inSLC3A1 by semi-quantitative fluorescent multiplex PCR
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic muta
Novel mutations in 13 probands with galactokinase deficiency
Mutational analysis ofATP7Band genotype-phenotype correlation in Japanese with Wilson's disease ✓ Japanese
A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis
Twenty two novel mutations of the factor VII gene in factor VII deficiency
A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children
Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia
Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria
A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect
Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG?CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1?) gene which causes maturity-onset diabetes of the young (MODY)
Three novel mutations, c314C&gt;A, C778insC, and c1285+2T&gt;A, in exon 2 of the Wilson disease gene
Novel single nucleotide polymorphisms (SNPs) at positions 497 (T/G) and 829 (T/C) in the human c-FOS gene and haplotype association
High mutation detection rate inTCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations
Identification of a novel polymorphism (IVS45+20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1)
First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient
Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)
Novel silent variant (c1722G&gt;A) in the coding region of the insulin receptor substrate 1 (IRS1) gene
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
Rapid and comprehensive determination of cytochrome P450CYP2D6 poor metabolizer genotypes by multiplex polymerase chain reaction
Identification ofPATCHED mutations in medulloblastomas by direct sequencing
Distribution of Q188R and N314D mutations in the Hungarian galactosemic population ✓ Hungarian
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia
3? polymorphisms of ETS1 are associated with different clinical phenotypes in SLE
Evaluation of enzymatic mutation detection? in hereditary nonpolyposis colorectal cancer
A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease
Three novel mutations (P215L, T289P, and 3811-2 A?G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families
Genetic heterogeneity in Peutz-Jeghers syndrome
Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: Prenatal exclusion of this disorder in one family
A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis
The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation
The spectrum ofpatched mutations in a collection of Australian basal cell carcinomas
Signature-based analysis of MET proto-oncogene mutations using DHPLC
Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness ✓ Greek patients
Tuberous sclerosis type 1: Three novel mutations detected in exon 15 by a combination of HDA and TGGE
Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients
Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2)
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa; Robyn Kerr, Gwynneth Stevens, Prashiela Manga, Sarah Salm, Premila John, Tabitha Haw, and Michele
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig
A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations inAMPD3
Identification of genetic variants (g789C&gt;T and G111S) in the human HSPB2 gene
BRCA2 germline mutations in male breast cancer patients in the Polish population ✓ Polish population
Prevalence of BRCA1 founder mutations in western Poland
Novel mutations in theGALK1gene in patients with galactokinase deficiency
A novel polymorphism (-88 C&gt;A) in the 5? UTR of the p53R2 gene
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms
Identification of two highly informative STRs (GT) <sub>15‐25</sub> and (GT) <sub>9‐21</sub> within the critical region of <i>RP25</i>
A new Msp I polymorphism (g1741G&gt;A) in intron 3 of the human d-aminolevulinate dehydratase gene
Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families
A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: A mutation cluster within exon 20
Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and ade novo mutation in Hellenic polycystic kidney disease families
VARIATION, DATABASES, and DISEASE: New directions forHuman Mutation
The thermolabile variant 677C?T can further reduce activity when expressed in CIS with severe mutations for human methylenetetrahydrofolate reductase
Study of the voltage-gated sodium channel ?1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC)
OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling
Screening the 3? region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations
mut0 methylmalonic acidemia: Eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation
Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family ✓ Chinese-Taiwanese family
A novel variant of human lysozyme (T70N) is common in the normal population
A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: First reported Korean case
Mutations in holoprosencephaly
Mutations of the human PTEN gene
The Breast Cancer Information Core: Database design, structure, and scope
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
Screening for mutations in the peripheral myelin genesPMP22,MPZ andCx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients; Irina V. Mersiyanova, Sookhrat M. Ismailov, Alexandr V. Polyakov, Ele
Characterization of 11 new mutations inCOL3A1 of individuals with Ehlers-Danlos syndrome type IV: Preliminary comparison of RNase cleavage, EMC and DHPLC assays
Molecular analysis in glycogen storage disease 1non-A: DHPLC detection of the highly prevalent exon 8 mutations of theG6PT1 gene in German patients ✓ German patients
Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease
Eleven novel APC mutations identified in Portuguese FAP families
Structural evidence of genomic exon-deletion mediated byAlu-Alu recombination in a human case with heme oxygenase-1 deficiency
A new polymorphism, g119A&gt;G, in the integrin alpha 7 (ITGA7) gene
Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer
Common polymorphism in p53 intron 2, IVS2+38G&gt;C
p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis
Erratum: Analysis of DNA elements that modulate myosin VIIa expression in humans
A novel splice-acceptor site mutation (IVS13-2A&gt;T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript
Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families
MEFV mutations in Turkish patients suffering from familial Mediterranean fever
The m2 and m4 polymorphisms in CYP1A1 by NcoI digest?Revision of detection method
Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE
A novel alpha-1-antitrypsin R281del variant found in a population sample from the Basque country
A novel polymorphism (g1344G&gt;C ) in exon 2 of the CD14 gene
Novel mutation in theRYR1gene (R2454C) in a patient with malignant hyperthermia
Quality control in the discovery, reporting, and recording of genomic variation
Human Gene Mutation Database?A biomedical information and research resource
Use of molecular variation in the NCBI dbSNP database
UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases
Somatic mosaicism in von Hippel-Lindau disease
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations
Nine independentF9 mutations in the Mexican hemophilia B population: Nonrandom recurrences of point mutation events in the human germline
Mutations of the factor VIII gene in Thai hemophilia A patients
A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation
A new mitochondrial DNA mutation in the tRNA leucine 1 gene (C3275A) in a patient with Leber's hereditary optic neuropathy
Characterization of three new VNTR alleles in the promoter region of the TPMT gene
NovelTIGR sequence alteration Val53Ala
A new germline mutation, R600Q, within the coding region ofRET proto-oncogene: A rare polymorphism or a MEN 2 causing mutation?
Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress
Acknowledgments
Ethical guideposts for allelic variation databases
Central mutation databases?A review
Progress of the HUGO Mutation Database Initiative: A brief introduction to theHuman Mutation MDI Special Issue
Sequence variation database project at the European Bioinformatics Institute
PAHdb: A locus-specific knowledgebase
Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients
Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency
A novel splice mutation, 4006-1G&gt;A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Coping with change: Intellectual property rights, new legislation, and the Human Mutation Database Initiative
Overview: Progress toward a new millennium of medical genetics
Online Mendelian Inheritance In Man (OMIM)
Future vision of the GDB Human Genome Database
MuStaR? and other software for locus-specific mutation databases
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
Eye disorder database ?KMeyeDB?
PCR diagnosis of X‐linked ichthyosis: Identification of a novel mutation (E560P) of the steroid sulfatase gene
Screening practices for mutations in the CFTR gene ABCC7
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
Phenylketonuria and hyperphenylalaninemia in eastern Germany: A characteristic molecular profile and 15 novel mutations
IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3 Communicated by: R.G.H. Cotton Online C
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa
A variation in the HindIII restriction pattern of the dystrophin gene DMD with cDMD probe 11–14
Five novel mutations in fourteen patients with Fabry disease Communicated by: Daniel F. Schorderet Online Citation: Human Mutation, Mutation in Brief #292 (1999) Online http://journals.wiley.com/1059-
Mutations in the humanTWIST gene
Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1? (TCF1) promoter region in MODY patients
A novel missense mutation (R712L) adjacent to the ?active thiol? region of the cardiac ?-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family
Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia
Big Dye? terminator cycle sequencing chemistry: Accuracy of the dilution process and application for screening mutations in the TCF1 and GCK genes
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis
Mutation 985A&gt;G in the MCAD gene shows low incidence in Estonian population ✓ Estonian population
The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #95 (1999) On
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #297 (1
Polymorphism (g2035C&gt;T) in the amelogenin gene
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1)
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria
7th International HUGO Mutation Database Meeting, October 19, 1999, San Francisco, U.S.A.
High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia
Novel cystic fibrosis mutation L1093P: Functional analysis and possible Native American origin ✓ Native American
Various AGC repeat numbers in the coding region of the human transcription factor gene E2F-4 Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation in Brief #301 (1999) Online http:/
Mutation detection by TaqMan-allele specific amplification: Application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency
The International Federation of Human Genetics Societies: A nexus of communication among geneticists worldwide
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: Identification of 3 novel polymorphisms and haplotype definition Communicated by: R.G.
Fifteen new mutations (-195C&gt;T, L-12X, 298-2A&gt;G, T117N, A159T, R229S, 997+2T&gt;A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSA
Nomenclature of trypsinogen mutations in hereditary pancreatitis
Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease
Sequence variants ofDLC1 in colorectal and ovarian tumours
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R) ✓ Czech and Slovak galactosemia populations
Glucocerebrosidase gene mutations in patients with type 2 Gaucher diseaseThis article is a US Government work and, as such, is in the public domain in the United States of America.
BRCA1 mutation analysis in breast/ovarian cancer families from Greece
Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: Identification of novel mutations
Novel frameshift mutations in theRP2 gene and polymorphic variants
Characterization ofATM mutations in 41 Nordic families with Ataxia Telangiectasia
8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada
Hepatocyte nuclear factor 1 alpha (HNF-1?) mutations in maturity-onset diabetes of the young
SALL1 mutations in Townes-Brocks syndrome and related disorders
Jagged1 mutations in Alagille syndrome
A missense mutation in the OCTN2 gene associated with residual carnitine transport activity
Novel cardiac ?-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy
T&gt;C transition in codon 72 (TCG?CCG), S72P, a putative hotspot in PMP22
Eight novel mutations of theFBN1 gene found in Japanese patients with Marfan syndrome
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #308 (1999
The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant? Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation in Brief #313 (1999) Online http:/
A novel missense mutation, S1159F, in exon 19 of the CFTR gene
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5 Communicated by: Mar
Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: Prenatal exclusion of this disorder in one family Communicated by: Darwin J. P
A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus
DNA 2000: International Symposium on the State-of-the-Art in Genetic Analysis, June 1–3, 2000, Boston, U.S.A.
Molecular anatomy of CTG expansion in myotonin protein kinase gene among myotonic dystrophy patients from eastern India
Identification of 6 new polymorphisms, g.11177G&gt;A, g.14622C&gt;T (R49C), g.17540T&gt;C, g.17639T&gt;C, g.30929T&gt;C, g.31074G&gt;A (R454Q), in the human microsomal epoxide hydrolase gene (EPHX1) i ✓ French population
Mutations in the LMNA gene encoding lamin A/C
First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient
Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)
Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation a
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families
Identification of a polymorphism (D366H) in the endoglin gene in Chinese ✓ Chinese
Identification of a novel large F9 gene mutation?An insertion of an Alu repeated DNA element in exon e of the factor 9 gene
The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation
Polymorphism (1339G&gt;A; A447T) in exon 13 of human kidney chloride channel geneCLCNKA
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency syndrome; Dong Wang; Pamela Kranz-Eble; Darryl C. De Vivo; (Article was originally published in Human Mutation 16:224-231, 2000)
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #331 (2000) Online http://journals.wiley.com/1059-7 ✓ Finnish
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia geneSLC19A2 of eight families
Transthyretin Ile84Thr is associated with familial amyloid polyneuropathy
A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)
Genetic variation in ICF syndrome: Evidence for genetic heterogeneity
Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the geneW and theIDS gene
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies
Identification of a new polymorphism (c134G&gt;A) in the exon 2 of the myelin protein zero gene Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #100
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes Communicated by: Mark H. Paalman Online C
A novel polymorphism (219G&gt;A) in the transferrin receptor gene
Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland
A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation
Two novel polymorphisms, c1086T&gt;C and c1798C&gt;T, in the MADH4/DPC4 gene
Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E
A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia
Human beta defensin 1 gene: Six new variants Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #122 (2000) Online http://journals.wiley.com/1059-7794/p
A novel complex mutation in exon 8 of RB1 in a case of isolated bilateral retinoblastoma
Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa
3′ polymorphisms of ETS1 are associated with different clinical phenotypes in SLE
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa; Robyn Kerr, Gwynneth Stevens, Prashiela Manga, Sarah Salm, Premila John, Tabitha Haw, and Michele
Identification of PATCHED mutations in medulloblastomas by direct sequencing Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #339 (2000) Online http://journals.wile
Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC)
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency Syndrome
Novel single nucleotide polymorphisms (SNPs) at positions 497 (T/G) and 829 (T/C) in the human c-FOS gene and haplotype association Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mu
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype
Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations Communicated by: Mark H. Paalman Online Citation: Human M ✓ South Africans, African Americans
Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation a
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography
A novel SSCP variant (c.828G&gt;A) within the M2 domain of the human neuronal nicotinic acetylcholine receptor ?4 subunit gene,CHRNA4
Identification of two functionally deficient plasma ?3-fucosyltransferase (FUT6) alleles
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content
Ten novelBRCA1 andBRCA2 mutations in breast and/or ovarian cancer families from northern Germany
Ourania Horaitis: Linking <i>Human Mutation</i> and the HUGO‐Mutation Database Initiative
Exon skipping in the ATM gene in normal individuals: The effect of blood sample storage on RT-PCR analysis
A novel polymorphism (c288C&gt;T) of the NPHS2 gene identified in a Taiwan Chinese family
Fifteen novel mutations in theJAGGED1 gene of patients with Alagille syndrome
Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia
NovelKCNQ1 mutations associated with recessive and dominant congenital long QT Syndromes: Evidence for variable hearing phenotype associated with R518X
RET andGDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems
Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: Description of four novel mutations ✓ Italian
Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: A splice junction mutation in int
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia
Genetic heterogeneity of glycogen storage disease type Ia in France: A study of 48 patients
Novelde novo nonsense mutation ofMECP2 in a patient with Rett syndrome
A novel mutation, Y103X, and exon skipping in a patient with Hunter disease
C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian Gypsy population (Article was originally published in Human Mutation 14:40–44, 1999) ✓ Gypsy population
Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #113 (2
Identification of a novel mutation (c279delC) and a polymorphism (c291C&gt;G) in the von Hippel-Lindau gene in Italian patients Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutati ✓ Italian patients
W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa
Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis
Three novel mutations (P215L, T289P, and 3811-2 A→G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families Communicated by: Mark H. Paalman Online Citation: Human Mutati ✓ Spanish families
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia ✓ Italian
A new frameshift mutation at codon 466 (1397delA) within the LMNA gene Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #151 (2000) Online http://jour
Allelic imbalance of BRCA1 transcript in the IVS20 12-bp insertion carrier Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #366 (2000) Online http://journals.wiley.
Five novel genetic variants in the promoter and coding region of the ?B-crystallin gene (CRYAB): -652G&gt;A, -650C&gt;G, -249G&gt;C, S41Y, P51L
Identification of a novel polymorphism (IVS45+20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1) Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation a
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families ✓ Scandinavian families
A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Re
Identification of a novel mutation C144F in the notch3 gene in an Australian CADASIL pedigree Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #176 (2
High frequency of recurrent mutations inBRCA1 andBRCA2 genes in Polish families with breast and ovarian cancer ✓ Polish families
A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient
Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, varian
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia
Identification of the first reported splice site mutation (IVS7-1G?A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyper
Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E &amp; C660X) in Cyprus
Three novel somatic mutations in theNF2 tumor suppressor gene [g816T&gt;A; g1159A&gt;G; gIVS11-1G&gt;T]
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation
A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b
Novel mutations in the myocilin gene in Japanese glaucoma patients
A -96C?T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa
Frequency ofBRCA1 andBRCA2 mutations in a clinic-based series of breast and ovarian cancer families
The spectrum of patched mutations in a collection of Australian basal cell carcinomas
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints
Enzymatic mutation detection (EMD?) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII
Two distinct alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi populations
Oligonucleotide microarray based detection of repetitive sequence changes
Russian mutational spectrum differs from that of their Western counterparts
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects Communicated by: Mark H. Paalman Online Cit
Homocystinuria in the Arab population of Israel: Identification of two novel mutations using DGGE analysis ✓ Arab population of Israel
Pharmacogenetics of catechol-O-methyltransferase: Frequency of low activity allele in a Ghanaian population
Higher resolution microplate array diagonal gel electrophoresis: Application to a multiallelic minisatellite
Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations
Is the Ala138Gly alteration of MEFV gene important for amyloidosis?
Detection of novelNF2 mutations by an RNA mismatch cleavage method
Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness
A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymo
Activating and inactivating mutations in the human GNAS1 gene
A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family?
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency
Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR
Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNALys gene Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #306 (1999) O
Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #102 (1999) Onli
MTM1 mutations in X-linked myotubular myopathy
Analysis of the human KCNH2(HERG) gene: Identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion Communicated by: Mark H. Pa
Twenty two novel mutations of the factor VII gene in factor VII deficiency
Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1) Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutat
New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome
Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation in Brief #341(2000) Onlin
Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a caucasian American family with Emery-Dreifuss muscular dystrophy ✓ ✓ caucasian American
A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M)
Hierarchical mutation screening protocol for theBRCA1 gene
Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR
Six novel MEN1 gene mutations in sporadic parathyroid tumors Communicated by: Richard G.H. Cotton Online Citation: Human Mutation, Mutation in Brief #373 (2000) Online http://journals.wiley.com/1059-7
A new case of alpha-1-antitrypsin frameshift mutation (1123insT) causing severe deficiency and emphysema
Wiskott Aldrich Syndrome in an Israeli family: Identification of a novel G40V mutation Online Citation: Human Mutation, Mutation and Polymorphism Report #170 (2000) Online http://journals.wiley.com/10
Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer ✓ Ashkenazi and non-Ashkenazi Jewish
A novel polymorphism IVS2+843C&gt;T in the alternate promoter b1 of the human AE2 anion exchanger gene
BTK mutations in patients with X-linked agammaglobulinemia: Lack of correlation between presence of peripheral B lymphocytes and specific mutations Communicated by: Mark H. Paalman Online Citation: Hu
Identification of 5 novel mutations in the AGXT gene
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in theC1 inhibitorgene of hereditary angioedema patients
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
Mutation in thePAX6 gene in twenty patients with aniridia
Novel mutations of theRPGR gene in RP3 families
Ryanodine receptor mutations in malignant hyperthermia and central core disease
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes
Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS
Direct genomic multiplex PCR forBRCA1 and application to mutation detection by single-strand conformation and heteroduplex analysis
A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective ✓ Austrian
A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria
Y688X, the first nonsense mutation in familial Mediterranean fever (FMF)
Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families ✓ Japanese
Private ?- and ?-sarcoglycan gene mutations: Evidence of a founder effect in Northern Italy
Low frequency of ankyrin mutations in hereditary spherocytosis: Identification of three novel mutations
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #310 (1999) Online http:/
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic muta
Novel mutations in 13 probands with galactokinase deficiencyV. Kolosha and E. Anoia contributed equally to this work.
A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #114 (2000) Onlin
A new polymorphism (N21D) in the exon 2 of the human MDR1 gene encoding the P-glycoprotein Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #115 (2000
A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning
Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation in Brief #
Signature-based analysis of MET proto-oncogene mutations using DHPLCThis article is a US Government work and, as such, is in the public domain in the United States of America.The content of this publi
Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2) Communicated by: Mark H. Paalman Online Citation: Human Mutation,
Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG→CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1α) gene which causes maturity-onset diabetes of the young (MODY)
CuZn-superoxide dismutase gene in sporadic amyotrophic lateral sclerosis patients from Russia: Asp90Ala (D90A) mutation and novel rare polymorphism IVS3+35 A&gt;C
Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 —A challenging problem Communicated by: Linda Tyfield Online Citation: Human Mutation, Mutation and Polymorph
Two novel serine repeat length polymorphisms (1043insS and 1043inssS) at exon 23 of theTSC1 gene
A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone
Two 3? polymorphisms in DLX5: g126427delTATC and g126249T?C
A novel polymorphism (g722G&gt;A) in exon 2 of the AVPR2 gene
Novel variants in 3 kb of 5?UTR of the ?1-adrenergic receptor gene (-93C&gt;T, -210C&gt;T, and -2146T&gt;C): -2146C homozygotes present in patients with idiopathic dilated cardiomyopathy and coronary
Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum
A novel deletion (c663delC) at exon 5 of the proteolipid protein gene in Pelizaeus-Merzbacher disease
Screening of thiopurine S‐methyltransferase mutations by horizontal conformation‐sensitive gel electrophoresis
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
Novel allele containing a 190C&gt;T nonsynonymous substitution in the N-acetyltransferase (NAT2) gene
A novel missense mutation (L198R) in the Friedreich's ataxia gene
Identification of specific <i>BRCA1</i> and <i>BRCA2</i> variants by DHPLC
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described
Characterization of the CYP21 gene 5? flanking region in patients affected by 21-OH deficiency
Analysis of CDKN1C in Beckwith Wiedemann Syndrome
A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis
Sequence variation within theRPGR gene: Evidence for a founder complex allele
Novel intronic polymorphisms (IVS6-73A/G and IVS21+124A/G) in the glycogen-debranching enzyme (AGL) gene
Novel single nucleotide polymorphisms (3203A&gt;G and 3204C&gt;T) in the 3? end of the mitochondrial 16S rRNA gene
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: Expression of mutated genes
Novel intronic polymorphism (+1675G/A) in the human angiotensin II subtype 2 receptor gene
Genetic variants in the promoter (g983G&gt;T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathy
Novel 67-bp insertional mutation in theASS gene in a patient with citrullinemia
Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in B
Factor VII deficiency and the FVII mutation database
Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome
A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy
Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease) ✓ Portuguese
Mutations in the humanTWIST gene
Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540del10
Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: Lack of FANCA protein
Identification of two polymorphisms (c189G&gt;C; c190T&gt;C) in exon 2 of the humanMRP6 gene (ABCC6) by screening of pseudoxanthoma elasticum patients: Possible sequence correction?
Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: Identification of 3 novel mutations in the LDL receptor gene ✓ Spanish
Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans ✓ Latin Americans
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families
A novel DNA polymorphism (4886C&gt;T) in the human LCAT gene Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation and Polymorphism Report #97 (1999) Online http://journals.wiley.co
β-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement
Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area Communicated by: Jürgen Horst Online Citation: Human Mutation, Mutation in Brief #305 (1999) Online http://journ
Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease) ✓ Taiwan Chinese
An R223P mutation in EXT2 gene causes hereditary multiple exostoses Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #108 (1999) Online http://journal
A novel Sta glycophorin produced via gene conversion of pseudoexon III from glycophorin E to glycophorin A gene
A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #328 (2000
Evaluation of enzymatic mutation detection™ in hereditary nonpolyposis colorectal cancer
Rapid and comprehensive determination of cytochrome P450 CYP2D6 poor metabolizer genotypes by multiplex polymerase chain reaction
Tuberous sclerosis type 1: Three novel mutations detected in exon 15 by a combination of HDA and TGGE Communicated by: Jürgen Horst Online Citation: Human Mutation, Mutation in Brief #336 (2000) Onlin
Distribution of Q188R and N314D mutations in the Hungarian galactosemic population Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #342 (2000) Online http://journal
Identification of two new polymorphisms (c2447-125A&gt;G; c2532G&gt;A) in the ?2-COP (COPG2) gene by screening of Silver-Russell syndrome patients
Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #353 (2000
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1 Communicated by: Jurgen Horst Online Citation: Human Mutation, Mutation in Brief #363 (2000) Online
An association study of polymorphisms in the alpha-antichymotrypsin gene for Alzheimer disease in Han-Chinese ✓ Han-Chinese
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome
Comparative sequence analysis (CSA): A new sequence-based method for the identification and characterization of mutations in DNA
A novel germline mutation, P48T, in the CDKN2A/p16 gene in a patient with pancreatic carcinoma Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #168 (
Polymorphisms in a pseudogene highly homologous to PMS2 Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #380 (2000) Online http://journals.wiley.com/1059-7794/pdf/m
TIGR/MYOC proximal promoter GT-repeat polymorphism is not associated with myopia
A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1)
Novel silent variant (c1722G&gt;A) in the coding region of the insulin receptor substrate 1 (IRS1) gene Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Repo
Molecular analysis of the TFR2 gene: Report of a novel polymorphism (1878C&gt;T)
Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype
MEFV mutations in Beh�et's disease
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene
Genetic heterogeneity in Peutz-Jeghers syndrome
A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief
Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree
Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families
Novel thymidylate synthase enhancer region alleles in African populations Communicated by: Riccardo Fodde Online Citation: Human Mutation, Mutation in Brief #376 (2000) Online http://journals.wiley.co
Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes
Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension
Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A&gt;G; IVS11-2A&gt;G; L78833, 37698, A&gt;G
Identification of two novel mutations [P122S (364C&gt;T) and 1601delAC] in the SLC3A1 gene in type I cystinurics
Mutational analysis of ATP7B and genotype–phenotype correlation in Japanese with Wilson's disease
Identification of a novelBLM missense mutation (2706T&gt;C) in a Moroccan patient with Bloom's syndrome ✓ Moroccan
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets
Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1
Detection of point mutations of BCL10 gene in hepatocellular carcinoma tissues: Report of 46 cases
A new BRCA1 germline mutation (E879X) in a Malaysian breast cancer patient of Chinese descent ✓ Chinese descent
Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria
A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) ✓ Taiwan Chinese
Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient
Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patients