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Human Mutation - 2001

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Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome
No evidence forBCL10 mutation in endometrial cancers with microsatellite instability
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients
Novel mutations in theemerin gene in Israeli families
A novel b(1-4)galactosyltransferase gene silent mutation (594C>T) associated with Hutchinson-Gilford progeria
Cathepsin C gene: First compound heterozygous patient with Papillon‐Lefèvre syndrome and a novel symptomless mutation
Three novel BRCA1 germline mutations (1104delAA, 1276delTT, 3747delGA) detected in breast/ovarian cancer families identified in the south of France
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease
Mutations in the<i>SURF1</i>gene associated with Leigh syndrome and cytochrome<i>c</i>oxidase deficiency
A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms
Denaturing high-performance liquid chromatography: A review
Automation in genotyping of single nucleotide polymorphisms
Two novel polymorphisms (c954T&gt;C and c1038A&gt;G) in exon8 of NPHS2 gene identified in Taiwan Chinese
Five novelRPGR mutations in families with X-linked retinitis pigmentosa
A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy
A novel polymorphism (471C?T) in alpha-1-antitrypsin in a patient with asthma
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases
Molecular analysis of phenylketonuria (PKU) in newborns from Texas
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2)
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
RNase cleavage-based methods for mutation/SNP detection, past and present
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation
Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients
Erratum: Identification of a novelCOCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families
Mutations in the human<i>DHCR7</i>gene
Five novel natural allelic variants?951A&gt;C, 1042G&gt;A (D348N), 1156A&gt;T (I386F), 1217G&gt;A (C406Y) and 1291C&gt;T (C431Y)?of the human CYP1A2 gene in a French Caucasian population ✓
Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect?
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11
Assessment of denaturing high‐performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2)
Eight novel<i>ABCD1</i>gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange
Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the<i>L1CAM</i>gene
Using linked markers to infer the age of a mutation
Expression and analysis of CLN2 variants in CHO cells: Q100r represents a polymorphism, and G389E and R447H represent loss-of-function mutations
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene)
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
Population screening if F508del (ΔF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina
DHPLC analysis of the MECP2 gene in Italian Rett patients
Detection of mutations in the<i>COL4A5</i>gene by SSCP in X-linked Alport syndrome
Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer
Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity
Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene
Detection of germline mutations in the BRCA1 gene by RNA-based sequencing
A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome
Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma
Quantification of single nucleotide polymorphisms: A novel method that combines primer extension assay and capillary electrophoresis
Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia
Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece
Molecular basis of phenylketonuria in Cuba
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome ✓ Italian
Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C&gt;T, IVS3+1G&gt;A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis def
Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #392 (2000) Online
A new Msp I polymorphism (g1741G&gt;A) in intron 3 of the human d-aminolevulinate dehydratase gene Communicated by Robert Desnick Online Citation: Human Mutation, Mutation and Polymorphism Report #193
A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: A mutation cluster within exon 20 Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation and
A novel polymorphism (-88 C&gt;A) in the 5′ UTR of the p53R2 gene Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #200 (2000) Online http://journals.w
A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses
Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection
Molecular analysis of Bruton’s tyrosine kinase gene in Spain
Identification of three novel menin mutations (c.741delGTCA, c.1348T&gt;C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: Additional information for mutat ✓ Italian families
Erratum: Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation i
Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 (NF1) gene
Two novel polymorphisms (c954T&gt;C and c1038A&gt;G) in exon8 of NPHS2 gene identified in Taiwan Chinese Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Repo ✓ Taiwan Chinese
Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease ✓ Taiwan Chinese
Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods
BRCA2 gene mutations in Greek patients with familial breast cancer
Mucolipidosis type IV: NovelMCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population ✓ Jewish; Ashkenazi Jewish; non-Jewish
Transthyretin mutations in hyperthyroxinemia and amyloid diseases
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia
A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome
Data mining: Efficiency of using sequence databases for polymorphism discovery
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent ✓ French descent
A semi-automated system for analysis and storage of SNPs
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT)
Mutations of the human polycystic kidney disease 2 (PKD2) gene
Novel germline BRCA1 and BRCA2 mutations in breast and breast/ovarian cancer families from the Czech Republic
Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer
Mutation screening at the RNA level of the<i>STK11/LKB1</i>gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (<i>STK11</i>c.597<sup>⁁</sup>598insIVS4)
A novel<i>HEXA</i>mutation [1393G&gt;A (D465N)] in a Mexican Tay-Sachs disease patient
RNase cleavage-based methods for mutation/SNP detection, past and present
Analysis of a non-functional HNF-1? (TCF1) mutation in Japanese subjects with familial type 1 diabetes ✓ Japanese subjects
Mutation detection 2001: Sixth international symposium on mutations in the human genome, May 3-7, 2001, Bled, Slovenia
Erratum: A novel splice site mutation (3157+1G&gt;T) in the dystrophin gene causing total exon skipping and DMD phenotype
SNiPpets from the Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis, September 8-11, 2000, Taos, New Mexico, USA
Identification of a polymorphism (D168N) in the XRP2 gene in Chinese
Population analysis of g.2488delG and three novel polymorphisms (g.4497G&gt;A, g.4503G&gt;A and g.2319G&gt;A) in the plasminogen activator inhibitor 1 (PAI-1) gene
Two novel polymorphisms g.1715G&gt;A (A496T) and g.1838G&gt;A (3?UTR), and the g.1548G&gt;A (E469K) variant in the intercellular adhesion molecule 1 (ICAM1) gene: Distribution in the Japanese and Euro ✓ ✓ European American; Japanese
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome
Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications
Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population ✓ German population
Missense mutations of human homeoboxes: A review
Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population
Molecular analysis in newborns from Texas affected with galactosemia
A HEXA polymorphism (V436I) common to African-Americans and Ethiopian Jews ✓ African-Americans; Ethiopian Jews
Haplotyping and estimation of haplotype frequencies for closely linked biallelic multilocus genetic phenotypes including nuclear family information
Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changes
Mutations in the human DHCR7 gene
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency?including the first patients with mutations in the kinase domain
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
A new mutation in the BRCA1 gene (g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis
Denaturing high-performance liquid chromatography: A review
Frequency of recent retrotransposition events in the human factor IX gene
Variability of theCD36 gene in West Africa
Nine novel mutations inNR0B1 (DAX1) causing adrenal hypoplasia congenita
Identification of two highly informative STRs (GT)15-25 and (GT)9-21 within the critical region of RP25 Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Repor
Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families Communicated by Mark H. Paalman On ✓ Spanish families
No evidence for BCL10 mutation in endometrial cancers with microsatellite instability
A novel germline in frame deletion (4128del3) of the BRCA2 gene detected in a breast/ovarian cancer family with fallopian tube and brain tumors identified in the north of France
A novel polymorphism (471C→T) in alpha-1-antitrypsin in a patient with asthma Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #207 (2000) Online http:
Characterization of a new variant of ?1-antitrypsin EJohannesburg (H15N) in association with asthma
Human Mutation: The official journal of the Human Genome Variation Society (HGVS)
A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms
Novel mutations in the emerin gene in Israeli families Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #422 (2001) Online http://journals.wiley.com/1059-7794/pdf/mut
Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41
Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome
Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X
A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene
Mutation analysis of the tyrosinase gene in oculocutaneous albinism
Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome
Pendred syndrome, DFNB4, andPDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX
Communicating ?mutation:? Modern meanings and connotations
Identification of four novel polymorphisms in the calcitonin/α-CGRP (CALCA) gene and an investigation of their possible associations with Parkinson disease, schizophrenia, and manic depression
Four novelMSH2 andMLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer
Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype
APECED mutations in the autoimmune regulator (AIRE) gene
Molecular analysis of acid ceramidase deficiency in patients with Farber disease
A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection ofPLP1 gene duplication in Pelizaeus-Merzbacher disease
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV
Identification of an additional allelic variant (XLS) of the human serotonin transporter gene (SLC6A4): -1201Cins66
Oncogenic levels of mitogen-activated protein kinase (MAPK) signaling of the dinucleotide KRAS2 mutations G12F and GG12-13VC
Spontaneous and MNNG-induced reversion of an EGFP construct in HeLa cells: An assay for observing mutations in living cells by fluorescent microscopy
Nine novel APC mutations in Italian FAP patients ✓ Italian
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: Practice, problems and promise
Identification of two novel polymorphisms (g.903C&gt;T and g.1544C&gt;T) in thePAX2 gene
Improved detection of CFTR mutations in southern California Hispanic CF patients
Allelic association with SNPs: Metrics, populations, and the linkage disequilibrium map
Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease
Database for the mutations of the Finnish disease heritage
Genotype-phenotype comparison of the Swiss malignant hyperthermia population
Statistical multilocus methods for disequilibrium analysis in complex traits
Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED ✓ Central and Eastern European patients
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients
In memoriam
A new human mtDNA polymorphism: MTND6: 14562 (C?T)
Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification
Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation Communicated by Mark H. Paalman Online Citation: Human Mutation, M
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta
Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes
Determination of Lewis<i>FUT3</i>gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samples
Novel frameshift mutations inCRX associated with Leber congenital amaurosis
BRCA2 germline mutations in male breast cancer patients in the Polish population Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #386 (2000) Online http://journals.w
Novel mutations in the GALK1 gene in patients with galactokinase deficiency Communicated by Haig Kazazian Online Citation: Human Mutation, Mutation in Brief #394 (2000) Online http://journals.wiley.co
Five novel RPGR mutations in families with X-linked retinitis pigmentosa Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #396 (2000) Online http://journals.wiley.com
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation Communicated by Vladislov Baranov Online Citation: Human Mutation, Mutation in Bri
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
Exonic SNPs at positions 220 (A/G) and 445 (C/T) of the peripheral myelin protein 2 (PMP2)
LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy
Identification of four novel RB1 germline mutations in Korean retinoblastoma patients
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
Eight novel germline<i>MLH1</i>and<i>MSH2</i>mutations in hereditary non-polyposis colorectal cancer families from Spain
Characterization of publicly available SNPs in the Korean population
A novel b(1-4)galactosyltransferase gene silent mutation (594C&gt;T) associated with Hutchinson-Gilford progeria Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorph
A new polymorphism (c28C&gt;A) of EXT2 gene identified in a Taiwan Chinese family
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy
Mutation rate of MAP2K4/MKK4 in breast carcinoma
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency
Human GABAB receptor 1 gene: Eight novel sequence variants
A rare variant, I852M, of theRET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years
Use of mutation spectra analysis software
Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations
Automation in genotyping of single nucleotide polymorphisms
An improved high throughput heteroduplex mutation detection system for screeningBRCA2 mutations?fluorescent mutation detection (F-MD)
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia
Haplotyping of wild type and I278T alleles of the human cystathionine ?-synthase gene based on a cluster of novel SNPs in IVS12
Low level mosaicism detectable by DHPLC but not by direct sequencing
Identification of genetic variants (g789C&gt;T and G111S) in the human HSPB2 gene Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #196 (2000) Online h
A new technique for cyclic in situ amplification and a case report about amplification of a single copy gene sequence in human metaphase chromosomes through PCR-PRINS
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients Communicated by Ian McIntosh Online Citation: Human Mutation, Mutation in Brief #397 (2000) Online http://journals.wiley.com/1059-7794
A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #201 (2000) Onlin
Clinical spectrum of fibroblast growth factor receptor mutations; M.R. Passos-Bueno, W.R. Wilcox, E.W. Jabs, A.L. Sertié, L.G. Alonso, and H. Kitoh; (Article was originally published in Human Mutation
10th International HUGO Mutation Database Initiative Meeting, 19 April 2001, Edinburgh, Scotland
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa
Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of theTRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutantTRKA andPKLR genes in a family with CIPA and
A novel splice site mutation (3157+1G&gt;T) in the dystrophin gene causing total exon skipping and DMD phenotype
Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families
Fabry disease: 20 novel GLA mutations in 35 families
Ten novel<i>FBN2</i>mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype
Clinical and molecular basis of classical lissencephaly: Mutations in theLIS1 gene (PAFAH1B1)
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases
Germline and somatic mutation analyses in the DNA mismatch repair geneMLH3: Evidence for somatic mutation in colorectal cancers
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria
The changing meanings of ?mutation:? A contextualized study of public discourse
RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa
Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populations
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews ✓ Ashkenazi Jews
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment
SNPs, protein structure, and disease
Ovarian cancer BRCA1 mutation detection: Protein truncation test (PTT) outperforms single strand conformation polymorphism analysis (SSCP)
Polymorphism (-173G&gt;A) in promoter of human epithelial sodium channel gamma subunit gene (SCNN1G) and association analysis in essential hypertension
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy
High incidence of N and K-Ras activating mutations in multiple myeloma and primary plasma cell leukemia at diagnosis
Identification of a novelCOCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients
Variable expressivity and mutation databases: The androgen receptor gene mutations database
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase
Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): Mutations and polymorphisms inTRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor
Hypervariable area in the 5′ flanking region of GSTP1, previously reported as a minisatellite ATAAA repeat
Improved detection ofCFTR mutations in Southern California Hispanic CF patients
A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3 Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #395
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation and P
Three novel BRCA1 germline mutations (1104delAA, 1276delTT, 3747delGA) detected in breast/ovarian cancer families identified in the south of France Communicated by Haig H. Kazazian Online Citation: Hu
Three novel BRCA2 germline mutations (1864 delT, 6132 del4, 8208 del5) detected in breast cancer families identified in the south of France
A novel intronic polymorphism (intron 2 +130 (CT)n) in the human homeobox gene HOXB3
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #212 (2000) Online h
Molecular analysis of phenylketonuria (PKU) in newborns from Texas Communicated by Daniel Schorderet Online Citation: Human Mutation, Mutation in Brief #424 (2001) Online http://journals.wiley.com/105
Mutation detection in the alpha-1 antitrypsin gene (PI) using denaturing gradient gel electrophoresis
Go!Poly: A gene-oriented polymorphism database
Twenty‐two novel LMX1B mutations identified in nail patella syndrome (NPS) patients
Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis
Identification of a novel polymorphism (IVS6-33C-&gt;G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in<i>RPE65</i>gene
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene
Prevalence of BRCA1 founder mutations in western Poland Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #389 (2000) Online http://journals.wiley.com/1059-7794/pdf/mu
Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus
Studies of the variability of the hepatocyte nuclear factor-1β (HNF-1β / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and β-cell function
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia
SNP 2000: Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis
SNP 2000: Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis
Two polymorphic mutations (c2331A&gt;C and IVS11+142insAGAAATTTTAAGTCTT) in the human peroxin 1 gene (<i>PEX1</i>)
Maternal mosaicism for a second mutational event?a novel deletion?in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC
Identification of a novelde novo mutation (G373D) in the ?-galactosidase A gene (GLA) in a patient affected with Fabry disease
On the changing meanings of ?mutation?
The R71G<i>BRCA1</i>is a founder Spanish mutation and leads to aberrant splicing of the transcript
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea
Mutations in BTD causing biotinidase deficiency
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype–phenotype relationship
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene
Five novel single nucleotide polymorphisms of the RB1 gene (g.5625T&gt;C, g.70169T&gt;G, g.76875A&gt;T, g.78026delA, and g.150072T&gt;C) in retinoblastoma patients
Spectrum of<i>ABCA4</i>(<i>ABCR</i>) gene mutations in Spanish patients with autosomal recessive macular dystrophies
Structural and functional analysis of a new desmin variant causing desmin-related myopathy
Detection of known and two novel (M331I and R464S) missense mutations in the human CYP1A1 gene in a French Caucasian population ✓ French Caucasian population
A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis
Mutations inNR0B1 (DAX1) andNR5A1 (SF1) responsible for adrenal hypoplasia congenita
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients
A survey ofTWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals
Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific
Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles