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Human Mutation - 1998

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Exon 6 skipping in the fanconi anemia C gene associated with a nonsense/missense mutation (775C→T) in exon 5: The first example of a nonsense mutation in one exon causing skipping of another downstrea
A splicing mutation (891+4A→G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family ✓ Moslem Arab family
New mutation in BRCA1 gene detected in Austrian HBOC family
Novel mutation (G188R) in the G6Pase gene of a patient with glycogen storage disease type 1a
Novel cystic fibrosis mutation involving deletion of exons 14b through 18 (CF?20kbdel 14b-18) in a cystic fibrosis patient of German descent from Upstate New York ✓ German descent
Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes
Frequency of codon 1061 and codon 1309 APC mutations in Australian familial adenomatous polyposis patients
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia
Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients
A novel mutation (E358K) in the α-galactosidase A gene detected in a Japanese family with Fabry disease
Identification of two PAX3 mutations causing waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)
Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish population ✓ Ashkenazi Jewish population
Three novel germline BRCA1 mutations in early-onset breast and ovarian cancer families
Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family ✓ Japanese
Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients
Leber's hereditary optic neuropathy in Indonesia: Two families with the mtDNA 11778G>A and 14484T>C mutations
Mutation analysis in 11 French patients with Fabry disease
40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene
Deletion-insertion mutation encompassing RET codon 634 is associated with medullary thyroid carcinoma
A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe x-linked charcot-marie-tooth disease
Mutations of ATP7B gene in wilson disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population
Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene
Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization ✓ Japanese
Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy
The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphoma
310 basepair APC deletion with duplication of breakpoint (4394ins 15del310) in an Italian polyposis patient ✓ Italian
Missense mutation (I143T) in a Japanese patient with Canavan disease
Possible common mutations in the low density lipoprotein receptor gene in Chinese
Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia
Low basal transcripts of the COL2A1 collagen gene from lymphoblasts show alternative splicing of exon 12 in the kniest form of spondyloepiphyseal dysplasia
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia
Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome
Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: A novel mutation in exon 3
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing
A619→G substitution in the HEXB gene is not a deleterious mutation, but a frequent polymorphism
335-base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuria
Cys 634 mutations in the RET proto-oncogene in Spanish families affected by MEN 2A
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia
The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations ✓ French
Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia
Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families
Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population
Dyslipidemias associated with heterozygous lipoprotein lipase mutations in the French-Canadian population ✓ French-Canadian population
G6PD Mount Sinai: A new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D)
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene
Identification of point mutations in the aminopeptidase N gene by SSCP analysis and sequencing
Identification of three new mutations of the low density lipoprotein receptor gene in Dutch familial hypercholesterolemic patients ✓ Dutch
Novel 5 bp germline deletion in exon 11 of the BRCA1 gene
Two new missense mutations (P134T and A244V) in the coagulation factor VII gene
Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype
3′ acceptor splice site mutation in intron 50 leads to mild duchenne muscular dystrophy phenotype
Novel missense mutation (M72V) of α-galactosidase gene and its expression product in an atypical fabry hemizygote
Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia
Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians
Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree
Mutation analysis in charcot-marie-tooth disease type 1 (CMT1)
A common mutation among blacks with mut− methylmalonic aciduria ✓ blacks
Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy
A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV
The Δ327 mutation in the fanconi anemia group C gene generates a novel transcript lacking the first two coding exons
Evidence for somatic and germline mosaicism in CRASH syndrome
Rhodopsin splice site sequence changes in retinitis pigmentosa and their effect at the mRNA level
Five novel factor IX mutations in unrelated hemophilia B patients
Two novel mutations in exons 5 and 15 of the adenomatous polyposis coli (APC) gene
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency
Hemoglobin Phnom Penh [α117Phe(H1)-Ile-α118Thr(H2)]; evidence for a hotspot for insertion of residues in the third exon of the α1-globin gene
Trp156Ter mutation in the PAX6 gene in a family with aniridia
R395W, K497E and P664L: Three missense mutations in the LDL receptor gene in Czech patients with familial hypercholesterolemia
Novel 4-bp insertion in exon 5 of the CuZn-superoxide dismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis
New mutation (S298P) in a patient with glycogen storage disease type IA
Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa
Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: Diagnostic implications in morquio disease
Novel nonsense mutation in exon 15 of the APC gene in one Jewish family
Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with hunter disease
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene
Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis
De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): Two amino acid insertion after Asp 118
Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome
Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein
Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male
A novel mutation, R125X in peroxisome assembly factor-1 responsible for zellweger syndrome
Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia
A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma
Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: Screening reveals low frequency in Icelandic breast cancer patients ✓ Icelandic
Use of conformation sensitive gel electrophoresis to detect single-base changes in the gene for COL10A1
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes
Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia
New frequent mutation in the PCCB gene in Spanish propionic acidemia patients
Novel deletion at codon 1254 of the BRCA1 gene in an Italian breast cancer kindred
Detection of five novel germline mutations of the APC gene in Irish familial adenomatous polyposis families
Identification of four novel mutations in the factor VIII gene: Three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC)
Three novel mutations in the von Hippel-Lindau tumour suppressor gene in Italian patients
Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: Two recurrent mutations, R137H and ΔV278, caused by the hypermutability at CpG dinucleotides
Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination
Novel 3678delA mutation in exon 26 of the dystrophin gene causing duchenne muscular dystrophy
I1269N: A novel mutation in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Novel missense mutation (P131R) in the HMG box of SRY in XY sex reversal
A 3-base pair insertional mutation in the choroideremia gene
Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1
Identification of an insertion and accompanying deletion in exon 31 of the neurofibromatosis type 1 gene
High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect
A germline missense mutation R337C in exon 10 of the human p53 gene
Identification of three novel mutations in the CFTR gene, R117P, ΔD192, and 3121-1G→A in four French patients
Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis
Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X
Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A
Mutation in the 5′ noncoding region of the SRY gene in an XY sex-reversed patient
First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy
A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A
Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia
A new informativeAlw 26 I polymorphism in exon 10 of the human low density lipoprotein receptor gene. Application to prenatal diagnosis
Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia
C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy
Detection of APC mutations in stool DNA of patients with colorectal cancer by HD-PCR
Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat
Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)
Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene
Multiple exon screening using restriction endonuclease fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome ✓ Spanish
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene
Chemical cleavage of mismatch: A new look at an established method
TwoCPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes
α-thalassaemia due to a single codon deletion in the α-1-globin gene. Computational structural analysis of the new α-chain variant
A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9
Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF)
Novel acceptor splice site mutation in the invariant AG of intron 6 of α-galactosidase A gene, causing Fabry disease
Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations
Variable penetrance of familial pheochromocytoma associated with the von Hippel Lindau gene mutation, S68W
Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY)
Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1)
Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma
Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from southern Italy
Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred
PAX6 mutations reviewed
Presenilin mutations in Alzheimer's disease
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype
Novel mutations in the TIGR gene in early and late onset open angle glaucoma
In vitro mutations in dihydrofolate reductase that confer resistance to methotrexate: Potential for clinical application
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita
Mutational analysis of the cystathionine β-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria
Germline mutations in Peruvian patients with hemophilia B: Pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern ✓ AmerIndians
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen
Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis
Molecular basis of type III hyperlipoproteinemia in Germany
Haplotype analysis of two recurrentCDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations
Gorlin syndrome: Identification of 4 novel germ-line mutations of the human patched (PTCH) gene
Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes
Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy
A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease
Niemann Pick disease type A in Israeli Arabs: 677delT, a common novel single mutation ✓ Israeli Arabs
Identification ofAlu-mediated deletions in the Fanconi anemia geneFAA
Information analysis of human splice site mutations
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms
Testing environment for single-gene disorders in U.S. reference laboratories
The Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia
Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis
Defects in mismatch repair occur afterAPC mutations in the pathogenesis of sporadic colorectal tumours
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups ✓ Israeli ethnic groups
Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry ✓ Turkish ancestry
Snapback SSCP analysis: Engineered conformation changes for the rapid typing of known mutations
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations
Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation
Polymorphisms in the coding exons of the human luteinizing hormone receptor gene
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy
Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations
The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II
The 1396del a mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer
W474C amino acid substitution affects early processing of the α-subunit of β-hexosaminidase A and is associated with subacute GM2 gangliosidosis
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome
A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome
Missense mutation in exon 11 (codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification ✓ French family
Deletion analysis of Bulgarian SMA families
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies
A frequent mutation in the acidic proline-rich protein gene, PRH2, causing a Q147K change closely adjacent to the bacterial binding domain of the cognate salivary PRP (Pr1′) in Afro-Americans ✓ Afro-Americans
A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G→T)
Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein
Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family
Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae
A novel homozygous nonsense mutation E135* in the type II 3β-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation inCPS1
Molecular diagnostics of 15 hemophilia A patients: Characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)
Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family
Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2)
In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function
Mutation analysis of interleukin-5 in an asthmatic cohort
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in theMTM1 gene
Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel
DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression
Constant denaturant gel electrophoresis (CDGE) inBRCA1 mutation screening
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles
Identification of a novel point mutation (S65T) in α-galactosidase A gene in Chinese patients with Fabry disease
A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia ✓ Japanese
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients
Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes
Rapid, efficient method for multiplex amplification from filter paper
Analysis of CpG C-to-T mutations in neurofibromatosis type 1
Novel allele of the insulin receptor substrate‐1 bearing two non‐conservative amino acid substitutions in a patient with noninsulin‐dependent diabetes mellitus
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia ✓ Spanish
A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: An unexpected absence of exon skipping
Two novel mutations in exon 11 of thePAH gene (V1163 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria
Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer
Zhang C, Liu VWS, Addessi CL, Sheffield DA, Linnane AW, Nagley P (1997) Differential occurrence of mutation in mitochondrial DNA of human skeletal muscle during aging. Hum Mutat 11:360–371.
New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy
Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome
A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS)
Mutation analysis of Wilson disease in Taiwan and description of six new mutations
Exon scanning of the entireTSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis
Protein truncation test: Detection of severe haemophilia A mutation and analysis of factor VIII transcripts
A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene
Population genetic diversity in relation to microsatellite heterogeneity
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene ✓ Ashkenazi Jewish
Transcript dosage effect in familial adenomatous polyposis: Model offered by two kindreds with exon 9APC gene mutations
Common ancestral mutations in theMEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland
Seven novel mutations inmut methylmalonic aciduria
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex
Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: Evidence for a founder effect
Detection of four novel mutations in the iduronate-2-sulfatase gene
Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient German-British
Identification of cystic fibrosis mutations in the United Arab Emirates
Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene
Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals
Novel germline p16INK4 allele (Asp145Cys) in a family with multiple pancreatic carcinomas
Two novel mutations (10410 T→G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation
Exons – Introns = Lexons: In-frame concatenation of exons by PCR
Identification of novel PAX6 mutations in two families with bilateral aniridia
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population
Ten novel mutations found in aniridia
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
Germline mutation profile of theVHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
Point mutation in intron 10 ofFMR1 is unlikely to be a cause of fragile X syndrome
Recommendations for a nomenclature system for human gene mutations
A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: Mechanism of mutation and structure–function relationships
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients
Different ocular abnormalities in individuals of a three-generation family caused by a new nonsense mutation in the PST domain of the PAX6 gene
The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy
Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia
Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations
Arginine 302 mutations in the pyruvate dehydrogenase E1α subunit gene: Identification of further patients and in vitro demonstration of pathogenicity
Analysis of recurrent germline mutations in theMEN1 gene encountered in apparently unrelated families
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese siblings ✓ Japanese
A new set of primers for mutation analysis of the human PAX6 gene
Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness
Proof of “disease causing” mutation
Molecular diagnosis of McArdle disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutation
Mutations of the cationic trypsinogen in hereditary pancreatitis
Pooled analysis of p53 mutations in hematological malignancies
Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA
The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy
Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia
Spectrum of mutations in Finnish patients with Charcot‐Marie‐Tooth disease and related neuropathies
Single nucleotide polymorphism hunting in cyberspace
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency
Germline mutation profile of the VHL gene in von Hippel‐Lindau disease and in sporadic hemangioblastoma
Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations
Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome
Description of a novel RFLP diallelic polymorphism (-127 BsgI C/G) within the 5′ region of insulin gene
Zhang C, Liu VWS, Addessi CL, Sheffield DA, Linnane AW, Nagley P (1997) Differential occurrence of mutation in mitochondrial DNA of human skeletal muscle during aging. Hum Mutat 11:360–371.
Exons – Introns = Lexons: In‐frame concatenation of exons by PCR
Mutation Database Meeting, 27th March 1998
Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1)
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy
Response to Vincent and Gurling
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries
Deletion analysis of Bulgarian SMA families
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population ✓ Mediterranean population
Rapid and nonisotopic SSCP-based analysis of the BAT-26 mononucleotide repeat for identification of the replication error phenotype in human cancers
Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family
A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: Mechanism of mutation and structure–function relationships
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population
Mutation analysis of Wilson disease in Taiwan and description of six new mutations
Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles
Different missense mutations in histidine‐108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1
Ten novel mutations found in aniridia
A frequent TG deletion near the polyadenylation signal of the human HEXB gene: Occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3′ untranslated region
Identification of Alu‐mediated deletions in the Fanconi anemia gene FAA
Information analysis of human splice site mutations
Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene
Ataxia-telangiectasia in the Japanese population: Identification of R1917X, W2491R, R2909G, IVS33+2T→A, and 7883del5, the latter two being relatively common mutations
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population ✓ Ashkenazi Jewish population
Mutation analysis of interleukin‐5 in an asthmatic cohort
DNA deletion confined to the iduronate‐2‐sulfatase promoter abolishes IDS gene expression
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia
Polymorphisms in the coding exons of the human luteinizing hormone receptor gene
Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging
Novel allele of the insulin receptor substrate‐1 bearing two non‐conservative amino acid substitutions in a patient with noninsulin‐dependent diabetes mellitus
A novel mutation (V191G) in a German‐British type 1 Gaucher disease patient ✓ German‐British
Missense mutation in exon 11 (codon 378) of the presenilin‐1 gene in a French family with early‐onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification
Novel germline p16INK4 allele (Asp145Cys) in a family with multiple pancreatic carcinomas
Two novel mutations (10410 T→G; 10296 del C) at carboxy‐terminus of the dystrophin gene associated with mental retardation
A frequent mutation in the acidic proline‐rich protein gene, PRH2, causing a Q147K change closely adjacent to the bacterial binding domain of the cognate salivary PRP (Pr1′) in Afro‐Americans ✓ Afro‐Americans
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein
A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS)
Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae
A novel homozygous nonsense mutation E135* in the type II 3β‐hydroxysteroid dehydrogenase gene in a girl with salt‐losing congenital adrenal hyperplasia
Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2)
Identification of cystic fibrosis mutations in the United Arab Emirates
Identification of novelL1CAM mutations using fluorescence-assisted mismatch analysis
Mutation analysis of the 6‐pyruvoyl‐tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency
Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis
Clustering of private mutations in the congenital chloride diarrhea/down‐regulated in adenoma gene
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen
Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis
The identification of five novel mutations in the lysosomal acid a‐(1,4) glucosidase gene from patients with glycogen storage disease type II
A new informative Alw 26 I polymorphism in exon 10 of the human low density lipoprotein receptor gene. Application to prenatal diagnosis
Niemann Pick disease type A in Israeli Arabs: 677delT, a common novel single mutation
Identification of novel PAX6 mutations in two families with bilateral aniridia
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups
PAX6 mutations reviewed
Hereditary nonpolyposis colorectal cancer: Identification of novel germline mutations in two kindreds not fulfilling the Amsterdam criteria
Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del
Mutations of the human E-cadherin (CDH1) gene
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients
Population genetic diversity in relation to microsatellite heterogeneity
Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene
Seven novel mutations in mut methylmalonic aciduria
A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia ✓ Japanese
Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes
Double mutation (A171T) and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States
Analysis of CpG C‐to‐T mutations in neurofibromatosis type 1
The 1396del a mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer
Molecular basis of type III hyperlipoproteinemia in Germany
Two novel mutations in exon 11 of the PAH gene (V1163 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria
Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer
Novel missense and frameshift mutations in the activin receptor‐like kinase‐1 gene in hereditary hemorrhagic telangiectasia
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)
Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles
Genotype-phenotype analysis in four families with mutations in β-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy
Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation
Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample ✓ black African
Gorlin syndrome: Identification of 4 novel germ‐line mutations of the human patched (PTCH) gene
Detection of known and new mutations in the thiopurineS-methyltransferase gene by single-strand conformation polymorphism analysis
Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred
Common ancestral mutations in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland
Protein truncation test: Detection of severe haemophilia A mutation and analysis of factor VIII transcripts
In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function
Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages
Transcript dosage effect in familial adenomatous polyposis: Model offered by two kindreds with exon 9 APC gene mutations
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype
Multiple exon screening using restriction endonuclease fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene
Snapback SSCP analysis: Engineered conformation changes for the rapid typing of known mutations
Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations
Germline mutations in Peruvian patients with hemophilia B: Pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern
Rapid, efficient method for multiplex amplification from filter paper
W474C amino acid substitution affects early processing of the α‐subunit of β‐hexosaminidase A and is associated with subacute GM2 gangliosidosis
A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: An unexpected absence of exon skipping
A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome ✓ Japanese
Three novel RDS‐peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations
Variable penetrance of familial pheochromocytoma associated with the von Hippel Lindau gene mutation, S68W
New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy
A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G→T)
Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability
Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family
C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus
Testing environment for single‐gene disorders in U.S. reference laboratories
Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders
Recommendations for a nomenclature system for human gene mutations
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia
Molecular diagnostics of 15 hemophilia A patients: Characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping
Novel mutations and structural implications in R‐type pyruvate kinase‐deficient patients from southern Italy
Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome
Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF)
Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry ✓ Turkish ancestry
Novel mutations in the TIGR gene in early and late onset open angle glaucoma
α‐thalassaemia due to a single codon deletion in the α‐1‐globin gene. Computational structural analysis of the new α‐chain variant
Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations
Novel compound heterozygous laminina2‐chain gene (LAMA2) mutations in congenital muscular dystrophy
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome
Presenilin mutations in Alzheimer's disease
Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado‐Joseph disease
Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours
A compound heterozygote patient with Ehlers‐Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene
Confirmation of prenatal diagnosis results of X‐linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
Detection of APC mutations in stool DNA of patients with colorectal cancer by HD‐PCR
Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A‐REP repeat
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses
In vitro mutations in dihydrofolate reductase that confer resistance to methotrexate: Potential for clinical application
Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: Evidence for a founder effect
Identification of a novel point mutation (S65T) in α-galactosidase A gene in Chinese patients with Fabry disease ✓ Chinese patients
Detection of four novel mutations in the iduronate‐2‐sulfatase gene
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy
Chemical cleavage of mismatch: A new look at an established method
Novel acceptor splice site mutation in the invariant AG of intron 6 of α‐galactosidase A gene, causing Fabry disease
A nonsense mutation (R242X) in the branched‐chain α‐keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease
Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene
Improved detection of germline mutations in the von Hippel‐Lindau disease tumor suppressor gene
The Duarte allele impairs biostability of galactose‐1‐phosphate uridyltransferase in human lymphoblasts
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia
Identification of ATM mutations using extended RT‐PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A‐T mutations in Israel
Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
Mutational analysis of the cystathionine β‐synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia
A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9
Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes
Identification of three novel mutations in human EYA1 protein associated with branchio‐oto‐renal syndrome
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis
Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity‐onset diabetes of the young (MODY)