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Human Mutation - 1999

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Novel mutations associated with carnitine palmitoyltransferase II deficiency
A neutral polymorphism (c1088C>T) in the estrogen receptor detected by DGGE
IARC p53 mutation database: A relational database to compile and analyze p53 mutations in human tumors and cell lines
Molecular basis of the neuronal ceroid lipofuscinoses: Mutations inCLN1,CLN2,CLN3, andCLN5
Overview of mutations in thePCCA andPCCB genes causing propionic acidemia
A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers
Townes-Brocks syndrome: Detection of aSALL1 mutation hot spot and evidence for a position effect in one patient
A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis
A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers
Detection of protein truncating mutations in exons 1-14 of theAPC gene using an in vivo fusion protein assay
Identification of the mutation in the alkaptonuria mouse model
Identification of a mutation in the human raloxifene response element of the transforming growth factor-? 3 gene
Characterisation of 16 polymorphic markers in theNF2 gene: Application to hemizygosity detection
Heteroduplexes may confuse the interpretation of PCR-based molecular tests for the Friedreich ataxia GAA triplet repeat
Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y ✓ Turkish patients
A novel alpha‐1‐antitrypsin P362H variant found in a population sample from São Tomé e Príncipe (Gulf of Guinea, West Africa)
Novel mutations in theLKB1/STK11 gene in Dutch Peutz-Jeghers families
Different somatic and germlineHPRT1 mutations promote use of a common, cryptic intron 1 splice site
A novel germline mutation at exon 7 of the MSH2 gene (1249delG) in a large HNPCC Brazilian kindred
Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency
A methylation PCR approach for detection of fragile X syndrome
WRN mutations in Werner Syndrome
Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia
Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus
The protein truncation test: A review
Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus
A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a ?F508 mutation
A novel missense mutation Ile193Val in cholesteryl ester transfer protein gene
A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese population ✓ Japanese population
A germline mutation in the Von Hippel-Lindau disease gene (L178Q) detected by denaturing gradient gel electrophoresis in a large Jewish-Yemenite family ✓ Jewish-Yemenite
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome
Mutation in the coding region of theBRCA1 gene leads to aberrant splicing of the transcript
Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping
Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-Hinf1-1 background in a myotonic dystrophy patient from India
A new L771L polymorphism in the BRCA1 gene frequently found in southern Italy
Identification of twenty-one new mutations in the factor IX gene by SSCP analysis
Identification ofCYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis
A novel 8-bp insertion in codon 281 of p53 in a patient with acute lymphoblastic leukaemia and 2 separate leukaemic clones
Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects
Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations
TheFANCA gene in Japanese Fanconi anemia: Reports of eight novel mutations and analysis of sequence variability
WRN mutations in Werner syndrome
Co‐segregation of MEN2 and Hirschsprung's disease: The same mutation of <i>RET</i> with both gain and loss‐of‐function?
Congenital hyperinsulinism: Molecular basis of a heterogeneous disease
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
Homozygous mutation 341delG/101X of the glucose-6-phosphatase (G6PC) gene causes glycogen storage disease type Ia (von Gierke disease) in a Chinese patient ✓ Chinese
Alpha2-HS glycoprotein (fetuin) deficiency in a heterozygote of 4452A&gt;T
Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation
A missense mutation (W155R) in an American patient with Friedreich Ataxia
A novel missense mutation S65C in the HFE gene with a possible role in hereditary haemochromatosis
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes
Corrigenda
Cystic fibrosis patients with the 3272-26A?G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane
Molecular basis of late-life globoid cell leukodystrophy
New missense mutation in exon 13 (N789T) of the coagulation factor V gene
Fifth International Mutation Detection Workshop, May 13-16, 1999, Vicoforte, Italy
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies
From gels to chips: ?Minisequencing? primer extension for analysis of point mutations and single nucleotide polymorphisms
The same mutation affecting the splicing ofWT1 gene is present on Frasier syndrome patients with or without Wilms' tumor
Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure
Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism
Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families ✓ Dutch
Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda
Screen of 55 Slovenian haemophilia A patients: Identification of 2 novel mutations (S-1R and IVS23+1G?A) and discussion of mutation spectrum ✓ Slovenian
An 11-bp deletion in exon 10 (c1295del11) of WASP responsible for Wiskott-Aldrich Syndrome
Identification of a commonPEX1mutation in Zellweger syndrome
Spectrum of CFTR mutations in the middle north of Spain and identification of a novel mutation (1341G?A)
A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
Update of the androgen receptor gene mutations database
Clinical spectrum of fibroblast growth factor receptor mutations
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome ✓ German patients
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in spanish metachromatic leukodystrophy patients
Racial differences in the frequencies of cardiac ?1-adrenergic receptor polymorphisms: Analysis of c145A&gt;G and c1165G&gt;C
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese
A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease
Heterozygous familial hypercholesterolemia: A new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia
High incidence of cancer in a family segregating a mutation of theATM gene: Possible role of ATM heterozygosity in cancer
Identification of a 5? splice site mutation in theRPGR gene in a family with X-linked retinitis pigmentosa (RP3)
Human genetic diseases of proteolysis
Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations
Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability
Cystathionine ?-synthase mutations in homocystinuria
Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population ✓ Welsh control population
C283Y mutation and other C-terminal nucleotide changes in the ?-sarcoglycan gene in the Bulgarian gypsy population ✓ Bulgarian gypsy population
Identification of novel mutations in the PCCB gene in European propionic acidemia patients ✓ European propionic acidemia patients
A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy
RB1 gene mutations in retinoblastoma
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency
Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects
Two RFLPS ( <i>Aci</i> I; c954C/T and <i>Fok</i> I; c1023 <i>Fok</i> IT/C) within the coding region of the gene for human Fe65L2
Three novel polymorphisms in the gene responsible for the Hermansky-Pudlak syndrome
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients w
Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism
A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs
Novel single base polymorphisms and rare sequence variants in the laminin ?2-chain coding region detected by RNA/SSCP analysis
Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor
Human genetic diseases of proteolysis
Screening for mutations of theAPC gene in 66 Italian familial adenomatous polyposis patients: Evidence for phenotypic differences in cases with and without identified mutation
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity
Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu)
A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease
Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia
Comparison of three methods for single nucleotide polymorphism typing for DNA bank studies: Sequence-specific oligonucleotide probe hybridisation, TaqMan liquid phase hybridisation, and microplate arr
Coincidence of two novel arylsulfatase a alleles and mutation 459+1G&gt;A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneity
Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency
DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: Two novel mutations
Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss
The homozygous combination of Leu125Val and Ser563Asn polymorphisms in the PECAM1 (CD31) gene is associated with early severe coronary heart disease
Congenital hyperinsulinism: Molecular basis of a heterogeneous disease
E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer
Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene,FBN1
Splice-site mutation in thePDS gene may result in intrafamilial variability for deafness in Pendred syndrome
Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations Communicated by: Haig H. Kazazian, Jr. Online Citation: Human Mutation, Mutation in Brief
Methylation-sensitive, single-strand conformation analysis (MS-SSCA): A rapid method to screen for and analyze methylation
The ?F508 mutation in Ecuador, South America
Erratum: Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1)
Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations
Mia Horowitz, Metsada Pasmanik-Chor, Zvi Borochowitz, Tzipora Falik-Zaccai, Keren Heldmann, Rivka Carmi, Ruth Parvari, Hannah Beit-Or, Boleslav Goldman, Lea Peleg, Ephrat Levy-Lahad, Paul Renbaum, Sea ✓ Israeli Ashkenazi Jewish population
Peutz-Jeghers syndrome: Four novel inactivating germline mutations in theSTK11 gene
Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin : T55I, R164Q, V120E ✓ Greek origin
Corrigendum: Novel single base polymorphisms and rare sequence variants in the laminin ?2-chain coding region detected by RNA/SSCP analysis
Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21
Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo
Homozygous mutation 341delG/101X of the glucose-6-phosphatase (G6PC) gene causes glycogen storage disease type Ia (von Gierke disease) in a Chinese patient Communicated by: Richard G.H. Cotton Online ✓ Chinese
A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia
A novel germline mutation at exon 7 of the MSH2 gene (1249delG) in a large HNPCC Brazilian kindred Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation and Polymorphism Report #52
A novel missense mutation, R70W, in the human uncoupling protein 3 gene in a family with type 2 diabetes
A neutral polymorphism (c1088C&gt;T) in the estrogen receptor detected by DGGE Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #58 (1999) Online http
A novel missense mutation S65C in the HFE gene with a possible role in hereditary haemochromatosis Communicated by: Haig H. Kazazian, Jr. Online Citation: Human Mutation, Mutation and Polymorphism Rep
Identification of novel mutations in the PCCB gene in European propionic acidemia patients Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation in Brief #253 (1999) Online http://j ✓ European
Erratum: Different somatic and germline <i>HPRT1</i> mutations promote use of a common, cryptic intron 1 splice site
New mutations, polymorphisms, and rare variants in theATM gene detected by a novel SSCP strategy
The protein truncation test: A review
6th International HUGO Mutation Database Meeting, March 27, 1999, Brisbane, Australia
Identification of the new polymorphism IVS1-91 C?T in the beta globin gene
Mutation profile in the ?-myosin heavy chain gene in hypertensive hypertrophic heart disease
RB1 gene mutations in retinoblastoma
Somatic mutations of the first 14 exons of APC in hamartomatous polyps of the colon
A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease Communicated by: Haig H. Kazazian Online Citation: Human Mutation, Mutation in
Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects
A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansion
A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): A founder mutation in the Palestinian Arabs
Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PC
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change
Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita
CompoundSFTPB 1549C?GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency
Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox
Detection of the ?F508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology
Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts
Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/or ovarian cancer but not in 12 sporadic patients
A novel intragenetic PVUII marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene (CHRNA4)
Mutation analyses of North American APS-1 patients
Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a pane
Characterisation of 16 polymorphic markers in the NF2 gene: Application to hemizygosity detection
A novel ?27A&gt;G point mutation in the beta globin gene
Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families
Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis
A missense mutation (W155R) in an American patient with Friedreich Ataxia Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation and Polymorphism Report #55 (1999) Online http://jour
An 11-bp deletion in exon 10 (c1295del11) of WASP responsible for Wiskott-Aldrich Syndrome Communicated by: Haig H. Kazazian, Jr. Online Citation: Human Mutation, Mutation and Polymorphism Report #56
Polymorphism (g24914delA) in 5?-upstream region of presenilin 2 (PSEN2) gene
WRN mutations in Werner Syndrome
A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese population Communicated by: Haig H. Kazazian Online Citation: Human Mutation, Mutation and Polymorphism Report #68 (1999)
A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers
A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI
Heterozygous familial hypercholesterolemia: A new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia Communicated by: Haig H. Kazazian Online Citation: Human M
A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis Communicated by: Richard G.H. Cotton Online Citation: Human Mutation, Mutation and Polymorphism R
Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence
A novel mutation L1425p in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE);
Guidelines and recommendations for content, structure, and deployment of mutation databases
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations
Missense mutations in the cystic fibrosis gene in adult patients with asthma
Novel germline BRCA1 mutation (155del4) in an African American with early-onset breast cancer ✓ African American
Mutant transcripts of the LDL receptor gene: mRNA structure and quantity
High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants
No linkage of P187S polymorphism in NAD(P)H: Quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population
Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis
A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon
A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease
Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins] ✓ Turkish origin
Cystic fibrosis mutations in Israeli Arab patients
Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G&gt;C] in Spanish Gaucher disease patients
Clinical spectrum of fibroblast growth factor receptor mutations
Pathogenic presenilin 1 mutations (P436S &amp; I143F) in early-onset Alzheimer's disease in the UK
Co-segregation of MEN2 and Hirschsprung's disease: The same mutation of RET with both gain and loss-of-function?
Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia
Jagged-1 mutation analysis in Italian Alagille syndrome patients
Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families
Six novel ?-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis
Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions
A novel missense mutation 15747 T&gt;C in the mitochondrial cytochrome b gene
Genomic structure and identification of 11 novel mutations of thePEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism
CTNS mutations in patients with cystinosis
IARC p53 mutation database: A relational database to compile and analyze p53 mutations in human tumors and cell lines
Restricted distribution of loss-of-function mutations within theLMX1B genes of nail-patella syndrome patients
Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, an ✓ Polish
Analysis of exon 1 mutations in the androgen receptor gene
Osteogenesis imperfecta: Mosaicism and refinement of the genotype-phenotype map in OI type III
Highly sensitive mutation screening by REF with low concentrations of urea: A blinded analysis of a 2-kb region of the p53 gene reveals two common haplotypes
Deep intronic mutations are rarely a cause of hemophilia B
Threading analysis of the Pitx2 homeodomain: Predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis
Analysis of DNA elements that modulate myosin VIIA expression in humans
Identification of 8 new mutations in Brazilian families with Marfan syndrome
Mitochondrial deafness mutations reviewed
Identification of 6 new mutations in the iduronate sulfatase gene
Two novel mutations of theFMO3 gene in a proband with trimethylaminuria
Identification of a novel missense mutation (G149E) in the glucose-6-phosphate translocase gene in a Chinese family with glycogen storage disease 1b ✓ Chinese
C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian gypsy population
Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia
Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update
Rogan PK, Faux BM, Schneider TD. 1998. Information analysis of human splice site mutations. Hum Mutat 12:153-171.
Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects
Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mu
A novel missense mutation 14259 G&gt;A in the mitochondrial NADH dehydrogenase 6 gene (MTND6)
Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability
Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y Communicated by: R.G.H. Cotton Onli
Screen of 55 Slovenian haemophilia A patients: Identification of 2 novel mutations (S-1R and IVS23+1G→A) and discussion of mutation spectrum Communicated by: Haig Kazazian Online Citation: Human Mutat
A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele
Homozygous state for a new single bp-deletion (g.787delA) in exon 5 of the glucose-6-phosphatase gene in a patient with early onset of glycogen storage disease type 1a
Four novel mutations in the cystathionine ?-synthase gene: Effect of a second linked mutation on the severity of the homocystinuric phenotype
PCR detection of common DNA variation c626T&gt;C in encoding region of presenilin 2 (PSEN2) gene
Corrigenda
Spectrum of CFTR mutations in the middle north of Spain and identification of a novel mutation (1341G→A) Communicated by: Garry R. Cutting Online Citation: Human Mutation, Mutation in Brief #252 (1999
Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene?Lessons for corneal amyloidogenesis
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome Communicated by: Garry R. Cutting Online Citation: Human Mutation, Mutation in Brief #260 (1999) Online http://journals
Identification of three novel mutations in the MYO7A gene
Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5
A common 3-bp deletion in theDYT1 gene in Russian families with early-onset torsion dystonia
A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy Communicated by: Garry R. Cutting Online Citation: Human Mutation, Mutation and Polymorphism Report #69 (1999) On
Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy
Acute intermittent porphyria: Characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G&gt;
Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis
Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient
Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript
A single, large deletion accounts for all the ?-globin gene mutations in twenty families from Sabah (North Borneo), Malaysia
A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
Novel genetic polymorphisms in DNA repair genes: O6-methylguanine-DNA methyltransferase (MGMT) andN-methylpurine-DNA glycosylase (MPG) in lung cancer patients from Poland
A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome
From gels to chips: “Minisequencing” primer extension for analysis of point mutations and single nucleotide polymorphisms
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness
A novel missense mutation Ile59Asn in the PAX3 in family with Waardenburg syndrome type 1
X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1
Apo A-IMiyagi(947delA): A novel deletion in the apolipoprotein A-I gene associated with familial hypoalphalipoproteinemia
Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population Communicated by: Mark Paalman Online Citation: Human Mutation, Mutation in
Insertion of Alu element responsible for acute intermittent porphyria
Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC
Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation Communicated by: Haig H. Kazazian, Jr. Online Citation: H
A novel splice site mutation (IVS17-2A&gt;C) associated with Hermansky-Pudlak Syndrome
Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia Communicated by: Haig H. Kazazian Online Citation: Human Mutation, Mutation in Brief
Update of the androgen receptor gene mutations database
Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype–phenotype correlation studies in spanish metachromatic leukodystrophy patients
Molecular basis of late-life globoid cell leukodystrophy
An online locus-specific mutation database for familial hypertrophic cardiomyopathy
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #266 (1999) Online http://journals.wiley.com/
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency Communi ✓ Spanish patients
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome
Molecular characterization of phenylalanine hydroxylase deficiency in Chile
Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations
Analysis of bothTSC1 andTSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
Mutations of the humanBTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia
A novel BRCA1 mutation (1099 delCA stop codon 328) linked to breast and/or ovarian cancer
5th International HUGO Mutation Database Meeting, 27th October, 1998, Denver, U.S.A.
Cystathionine β-synthase mutations in homocystinuria
Identification of a common PEX1 mutation in Zellweger syndrome
A methylation PCR approach for detection of fragile X syndrome
TP53 mutation and haplotype analysis of two large African American families
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
Molecular characterization of Wilson disease in the Sardinian population?Evidence of a founder effect ✓ Sardinian population
Homonucleotide expansion and contraction mutations ofPAX2 and inclusion of Chiari 1 malformation as part of Renal-Coloboma syndrome
Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case
A germline mutation in the Von Hippel-Lindau disease gene (L178Q) detected by denaturing gradient gel electrophoresis in a large Jewish-Yemenite family Communicated by: Mark H. Paalman Online Citation ✓ Jewish-Yemenite
Fifth International Mutation Detection Workshop, May 13–16, 1999, Vicoforte, Italy
Characterization of the 415G&gt;A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping Communicated by: R.G.H. Cott
Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method ✓ Belgian population
Cystic fibrosis patients with the 3272-26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane
Low yield of polymorphisms from EST blast searching: Analysis of genes related to oxidative stress and verification of the P197L polymorphism in GPX1
Low frequency of oncogenic mutations in the core promoter region of the RB1 gene
Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda Communicated by: Haig H. Kazazian, Jr. Online Citation: Human Mutation, Mutation in Brief #237 (1999)
Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia
Novel mutations in African American patients with glycogen storage disease type II
Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-Hinf1-1 background in a myotonic dystrophy patient from India Communicated by: Haig Kazazian, Jr. Online Citation: Human Mutation, M
A new L771L polymorphism in the BRCA1 gene frequently found in southern Italy Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation and Polymorphism Report #33 (1998) Online http://
A g5580 T&gt;C variant located between the two polyadenylation sites of the interleukin-11 (IL11) gene
A novel heteroplasmic point mutation in the mitochondrial tRNALys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring
Novel mutations associated with carnitine palmitoyltransferase II deficiency
?-thalassemia in the German population: Mediterranean, Asian and novel mutations ✓ German population; Mediterranean; Asian
A novel 5-bp deletion in exon 30 of the neurofibromatosis type 1 (NF1) gene
A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele
WRN mutations in Werner syndrome
Heteroduplexes may confuse the interpretation of PCR-based molecular tests for the Friedreich ataxia GAA triplet repeat
Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC;
Identification of four novel mutations of theXLRS1 gene in Japanese patients with X-linked juvenile retinoschisis
A novel alpha-1-antitrypsin P362H variant found in a population sample from São Tomé e Príncipe (Gulf of Guinea, West Africa) Communicated by: Richard G.H. Cotton Online Citation: Human Mutation, Muta
Alpha2-HS glycoprotein (fetuin) deficiency in a heterozygote of 4452A&gt;T Communicated by: Haig Kazazian, Jr. Online Citation: Human Mutation, Mutation and Polymorphism Report #51 (1999) Online http:
Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site Communicated by: Daniel F. Schorderet Online Citation: Human Mutation, Mutation in Brief #246 (1999
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes
A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene(CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia
Racial differences in the frequencies of cardiac β1-adrenergic receptor polymorphisms: Analysis of c145A&gt;G and c1165G&gt;C Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation a
A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a ΔF508 mutation Communicated by: Garry R. Cutting Online Citation: Human Mutation, Mutation and Polymorphis
New missense mutation in exon 13 (N789T) of the coagulation factor V gene Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #75 (1999) Online http://jo
A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree
Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions
High incidence of cancer in a family segregating a mutation of the ATM gene: Possible role of ATM heterozygosity in cancer
Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease ✓ Greek-Cypriot
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
Temperature and pH effects on single-strand conformation polymorphism analysis by capillary electrophoresis
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases
Repopulation of ?0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene
A fast polymerase chain reaction-mediated strategy for introducing repeat expansions into CAG-repeat containing genes
Protein misfolding and degradation in genetic diseases
A study of Wilson disease mutations in Britain
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies
The FANCA gene in Japanese Fanconi anemia: Reports of eight novel mutations and analysis of sequence variability
A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects
Mutation screening of the entire coding regions of theTSC1 and theTSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects
Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient
Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure
A retrospective anonymous pilot study in screening newborns forHFE mutations in Scandinavian populations
Identification of the mutation in the alkaptonuria mouse model
Identification of a mutation in the human raloxifene response element of the transforming growth factor‐β 3 gene
Identification of a 5′ splice site mutation in the RPGR gene in a family with X‐linked retinitis pigmentosa (RP3)
Detection of protein truncating mutations in exons 1‐14 of the APC gene using an in vivo fusion protein assay
Identification of eleven novel tumor-associated e-cadherin mutations
Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy
Detection of mutations in COL4A5 in patients with Alport Syndrome
Identification of twenty‐one new mutations in the factor IX gene by SSCP analysis
A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers
Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis
A novel 8‐bp insertion in codon 281 of p53 in a patient with acute lymphoblastic leukaemia and 2 separate leukaemic clones
Glycogen storage disease type Ia: Four novel mutations (175delGG, R170X, G266V and V338F) identified