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Human Mutation - 1997

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Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes
Multiplede novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case
The cystic fibrosis ΔF508 gene mutation and cancer
Molecular heterogeneity of classical and duarte galactosemia: Mutation analysis by denaturing gradient gel electrophoresis
Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient
Glycogenosis type II: A juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans ✓ African Americans
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations ✓ European populations
Familial ligand-defective apolipoprotein B-100: Simultaneous detection of the ARG3500→GLN and ARG3531→CYS mutations in a French population
Identification of a new mutation of the myosin VII head region in Usher syndrome type 1
Hereditary coproporphyria: Exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene
Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT ✓ Nordic
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene
Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1)
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele
Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients
Cystic fibrosis mutation frequencies in upstate New York
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families
Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype
Mutations inmut methylmalonic acidemia: Clinical and enzymatic correlations
A nonsense mutation due to a single base insertion in the 3′-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa
Mutations of the androgen receptor gene in patients with complete androgen insensitivity
Novel mutation of the myelin P0 gene in a CMT1B family
Three novel mutations in the coproporphyrinogen oxidase gene
Molecular analysis of theAPC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis ✓ Dutch
Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients ✓ French
Mutations in purine nucleoside phosphorylase deficiency
Three germline mutations in theTP53 gene
Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system
E380D: A novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Identification of two mutations (S50Y and 4173delC) in theCFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)
Startle disease in an Italian family by mutation (K276E): The α-subunit of the inhibiting glycine receptor ✓ Italian
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis
Mutations of theRET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease
Metachromatic leukodystrophy: Identification of the first deletion in exon 1 and nine novel point mutations in the arylsulfatase A gene
NovelHEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level
Quantitative allele-specific PCR: Demonstration of age-associated accumulation in human tissues of the A→G mutation at nucleotide 3243 in mitochondrial DNA
Complex trinucleotide repeat polymorphism in the HOX B6 gene
G→T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP
Detection of mutations in multi-exon genes: Comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations
Novel G16S (GGC-AGC) mutation in theSOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis
Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndrome
Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia ✓ Finnish patient
New evidence for a mutation hotspot in exon 37 of the <i>NF1</i> gene
Mutations inSRY andSOX9: Testis-determining genes
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X‐linked agammaglobulinemia
Analysis of the myoglobin gene in heart disease
Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia
Similar mutant frequencies observed between pairs of monozygotic twins
Recurrent COL3A1 mutation results in EDS IV or familial aneurysms
Mutations in the adrenoleukodystrophy gene
Screening forESR mutations in breast and ovarian cancer patients
SSCP analysis: A blind sensitivity trial
Homozygosity for the common Ashkenazi Jewish Tay-Sachs +1 IVS-12 splice-junction mutation: First report ✓ Ashkenazi Jewish
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia
Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting
Three novel mutations of thePKD1 gene in Italian families with autosomal dominant polycystic kidney disease
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)
Novel mutations of theP gene in type II oculocutaneous albinism (OCA2)
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles
Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion ofAPC gene-specific isoforms
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for aPOU3F4 missense mutation
Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I def
Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients
Hereditary nonpolyposis colorectal cancer (HNPCC): Eight novel germline mutations in hMSH2 or hMLH1 genes
G6PD Sumaré: A novel mutation in the G6PD gene (1292 T→G) associated with chronic nonspherocytic anemia
Six novel mutations in the neurofibromatosis type 1 (NF1) gene
Human APRT deficiency: Indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair ✓
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications
Evidence for founder effect of the glu104asp substitution and identification of new mutations in triosephosphate isomerase deficiency
Tay-Sachs disease andHEXA mutations among Moroccan Jews ✓ Moroccan Jews
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids
Imprinting mutations on human chromosome 15
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value
Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the β-hexosaminidase α-chain gene in two Portuguese patients ✓ Portuguese patients
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene
APC mutations in familial adenomatous polyposis families in the Northwest of England
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
Molecular basis of heat labile hexosaminidase B among Jews and Arabs
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency
Two mutatedHEXA alleles in a Druze patient with late-infantile Tay-Sachs disease
Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy
Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomas
The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: Usefulness and limitations
Method for in situ investigation of mitochondrial DNA deletions
An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia
Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects
Simultaneous genotyping for all three known structural mutations in the human mannose-binding lectin gene
Mutation analysis of the connexin 32 (Cx32) gene in charcot-marie-tooth neuropathy type 1: Identification of five new mutations
Two new mutations in exon 3 of theNDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively
A novel splice site mutation (156 + 1G→A) in theTSC2 gene
Phenylketonuria in Spanish Gypsies: Prevalence of the IVS10nt546 mutation on haplotype 34 ✓ Spanish Gypsies
A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease
Novel missense mutation in the coagulation factor IX catalytic domain associated with moderate disease
Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis
Phenylketonuria splice mutation (EXON6nt-96Ag) masquerading as missense mutation (Y204C)
New splicing mutation in exon 5–6 of the p53-tumor suppressor gene in a malignant schwannoma
CTG trinucleotide repeat lengths in myotonic dystrophy alleles of patients with senile cataracts
Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene
Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis
Two new recurrent nucleotide mutations in theCOL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent
Three novel germline mutations in the adenomatous polyposis coli gene
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene
Mutations and DNA diagnoses of classical citrullinemia
A high incidence of mutations in exon 6 of the low‐density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation ✓ Greek
Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl‐coenzyme A thiolase gene in two Swiss patients with CRM‐negative β‐ketothiolase d ✓ Swiss
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview
Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vess
Identification of a splice site mutation (2789+5 G&gt;A) associated with small amounts of normal CFTRmRNA and mild cystic fibrosis
δ-Thalassemic phenotype due to two “novel” δ-globin gene mutations: CD11[GTC → GGC (A8)-HbA2-pylos] and CD 85 [TTT → TCT (F1)-HbA2-etolia]
Single-step DGGE-based mutation scanning of thep53 gene: Application to genetic diagnosis of colorectal cancer
Serine for glycine substitutions in the C‐terminal third of the α1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta
Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis
Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion
Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?
Scanning method of identify the molecular heterogeneity of δ-globin gene especially in δ-thalassemias: Detection of three novel substitutions in the promoter region of the gene
A five‐basepair deletion (7118 delTTTTA) identified within neurofibromatosis NF1 exon 39
Three novel point mutations in the dystrophin gene in DMD patients
New nonsense mutation in the breast cancer‐1 gene in a French site‐specific breast cancer family
Identification of a novel somatic mutation in the RET proto-oncogene in a patient with sporadic medullary thyroid carcinoma
The clinical spectrum of type IV collagen mutations
Nine novel L1 CAM mutations in families with X-linked hydrocephalus
DNA repair characteristics and mutations in theERCC2 DNA repair and transcription gene in a trichothiodystrophy patient
Six novel mutations in the emerin gene causing X‐linked Emery‐Dreifuss muscular dystrophy
An efficient and reliable multiplex PCR-SSCP mutation analysis test applied to the human E-cadherin gene
Oligonucleotide micro-arrays for identification of unknown mutations: how far from reality?
Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population
Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients
Mutations associated with hemophilia B in Turkish patients
Identification of a one-base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2
24 bp deletion and Ala1278 to val mutation of the ATP7B gene in a Sardinian family with Wilson disease ✓ Sardinian family
Diversity ofATM gene mutations detected in patients with ataxia-telangiectasia
Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmon
Molecular basis of HNPCC: Mutations of MMR genes
A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry ✓ Moroccans of Berber ancestry
Novel point mutations in the dystrophin gene
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome
A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia
Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence ✓ Ashkenazi Jews
Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: A novel mutation in exon 3
Registries of immunodeficiency patients and mutations
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations
Characterization of a deletion mutation involving exons 3–7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome
P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome
Analysis of multiple mitochondrial DNA deletions in inclusion body myositis
Novel point mutation within intron 10 ofFMR-1 gene causing fragile X syndrome
SSCP analysis of long DNA fragments in low pH gel
Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa
Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16
A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV
Probable identity by descent and discovery of familial relationships by means of a rare β-thalassemia haplotype
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in theCFTR gene
Introduction of a <i>myc</i> reporter tag to improve the quality of mutation detection using the protein truncation test
Three novel <i>PAX3</i> mutations observed in patients with Waardenburg syndrome type 1
Screening and biochemical characterization of transthyretin variants in the Portuguese population
Frequency of RET mutations in long- and short-segment Hirschsprung disease
Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population
Germline versus somatic mutations of theAPC gene: Evidence for mechanistic differences
Screening of 229 family cancer patients for a germline estrogen receptor gene (ESR) base mutation
Prediction of multiple hypermutable codons in the human PAH gene: Codon 280 contains recurrent mutations in Quebec and other populations
Mutations in theXPD gene leading to xeroderma pigmentosum symptoms
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene
Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and ΔM1140
Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques ✓ Italian
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of Familial Exudative Vitreoretinopathy
Ornithine transcarbamylase deficiency: Ten new mutations and high proportion of de novo mutations in heterozygous females
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy
(G586V) substitutions in the α1 and α2 chains of collagen I: Effect of α-chain stoichiometry on the phenotype of osteogenesis imperfecta?
A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus‐Merzbacher disease
Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis
NF1 mutation analysis using a combined heteroduplex/SSCP approach
Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: Mutational analysis and biochemical studies
Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: Analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging
Analysis of multiple mitochondrial DNA deletions in inclusion body myositis
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene
SSCP analysis of long DNA fragments in low pH gel
Quantitative enriched PCR (QEPCR), a highly sensitive method for detection of K-ras oncogene mutation
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X‐linked agammaglobulinemia
Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT ✓ Nordic
Fibrillin‐1 mutations in Marfan syndrome and other type‐1 fibrillinopathies
Mutation analysis of the connexin 32 (Cx32) gene in charcot‐marie‐tooth neuropathy type 1: Identification of five new mutations
Three novel mutations in the coproporphyrinogen oxidase gene
Mutations and DNA diagnoses of classical citrullinemia
Novel HEXA mutation in a Bedouin Tay‐Sachs patient associated with exon skipping and reduced transcript level ✓ Bedouin
Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl‐coenzyme A thiolase gene in two Swiss patients with CRM‐negative β‐ketothiolase d
Germline versus somatic mutations of the APC gene: Evidence for mechanistic differences
Screening of 229 family cancer patients for a germline estrogen receptor gene (ESR) base mutation
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene
Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques
Similar mutant frequencies observed between pairs of monozygotic twins
Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype‐phenotype correlations in neurofibromatosis type 1?
Scanning method of identify the molecular heterogeneity of δ‐globin gene especially in δ‐thalassemias: Detection of three novel substitutions in the promoter region of the gene
New nonsense mutation in the breast cancer‐1 gene in a French site‐specific breast cancer family
Simultaneous genotyping for all three known structural mutations in the human mannose‐binding lectin gene
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families
Mutations in the adrenoleukodystrophy gene
Molecular basis of HNPCC: Mutations of MMR genes
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene
Mutations of the RET proto‐oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease
Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine‐Sottas case
Identification of a one‐base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2
Homozygosity for the common Ashkenazi Jewish Tay‐Sachs +1 IVS‐12 splice‐junction mutation: First report ✓ Ashkenazi Jewish
Diversity of ATM gene mutations detected in patients with ataxia‐telangiectasia
Cys 618 Arg mutation in the RET proto‐oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting
G6PD Sumaré: A novel mutation in the G6PD gene (1292 T→G) associated with chronic nonspherocytic anemia
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications
Tay‐Sachs disease and HEXA mutations among Moroccan Jews ✓ Moroccan Jews
Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1)
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value
Novel point mutation within intron 10 of FMR1 gene causing fragile X syndrome
Two mutated HEXA alleles in a Druze patient with late‐infantile Tay‐Sachs disease ✓ Druze
Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers
A glycine (415)‐to‐serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers‐Danlos syndrome type IV
A novel splice site mutation (156 + 1G→A) in the TSC2 gene
A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one‐fifth are recurrent
Startle disease in an Italian family by mutation (K276E): The α‐subunit of the inhibiting glycine receptor
Novel mutations and polymorphisms in the human dystrophin gene detected by double‐strand conformation analysis
Three novel germline mutations in the adenomatous polyposis coli gene
Metachromatic leukodystrophy: Identification of the first deletion in exon 1 and nine novel point mutations in the arylsulfatase A gene
Single‐step DGGE‐based mutation scanning of the p53 gene: Application to genetic diagnosis of colorectal cancer
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy
Analysis of the myoglobin gene in heart disease
Identification of a novel somatic mutation in the RET proto‐oncogene in a patient with sporadic medullary thyroid carcinoma
Large majority of single‐nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis
Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2‐12: Analysis with a CMT1A‐REP repeat probe and photostimulated luminescence imaging
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
Identification of novel missense mutations in the Norrie disease gene associated with one X‐linked and four sporadic cases of Familial Exudative Vitreoretinopathy
Mutations associated with hemophilia B in Turkish patients
Familial ligand‐defective apolipoprotein B‐100: Simultaneous detection of the ARG3500→GLN and ARG3531→CYS mutations in a French population ✓ French population
Identification of a new mutation of the myosin VII head region in Usher syndrome type 1
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)
Hereditary coproporphyria: Exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene
Constitutive APC exon 14 skipping in early‐onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene‐specific isoforms
Mutation screening of all 65 exons of the fibrillin‐1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations
APC mutations in familial adenomatous polyposis families in the Northwest of England
Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients
Molecular basis of heat labile hexosaminidase B among Jews and Arabs ✓ Jews and Arabs
Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomas
Mutations in mut methylmalonic acidemia: Clinical and enzymatic correlations
New splicing mutation in exon 5–6 of the p53‐tumor suppressor gene in a malignant schwannoma
Mutations in the N‐terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1
Mutations in fibrillar collagens (types I, II, III, and XI), fibril‐associated collagen (type IX), and network‐forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vess
Identification of a splice site mutation (2789+5 G&gt;A) associated with small amounts of normal CFTRmRNA and mild cystic fibrosis
δ‐Thalassemic phenotype due to two “novel” δ‐globin gene mutations: CD11[GTC → GGC (A8)‐HbA2‐pylos] and CD 85 [TTT → TCT (F1)‐HbA2‐etolia]
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency
(G586V) substitutions in the α1 and α2 chains of collagen I: Effect of α‐chain stoichiometry on the phenotype of osteogenesis imperfecta?
Two mutations in the same low‐density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia
Nine novel L1 CAM mutations in families with X‐linked hydrocephalus
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient
An efficient and reliable multiplex PCR‐SSCP mutation analysis test applied to the human E‐cadherin gene
The clinical spectrum of type IV collagen mutations
Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmon
SSCP analysis: A blind sensitivity trial
The cystic fibrosis ΔF508 gene mutation and cancer
An expanded histatin gene polymorphism and test of a possible disease resistant phenotype
Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients
24 bp deletion and Ala1278 to val mutation of the ATP7B gene in a Sardinian family with Wilson disease
Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient
Six novel mutations in the neurofibromatosis type 1 (NF1) gene
Registries of immunodeficiency patients and mutations
P1148A in fibrillin‐1 is not a mutation leading to Shprintzen‐Goldberg syndrome
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)
Method for in situ investigation of mitochondrial DNA deletions
An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype
Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16
A nonsense mutation due to a single base insertion in the 3′‐coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa
Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively
Phenylketonuria in Spanish Gypsies: Prevalence of the IVS10nt546 mutation on haplotype 34 ✓ Spanish Gypsies
Two novel mutations (K384E and L539S) in the C‐terminal moiety of the cystathionine β‐synthase protein in two French pyridoxine‐responsive homocystinuria patients ✓ French
Transthyretin ILE20, a new variant associated with late‐onset cardiac amyloidosis
Probable identity by descent and discovery of familial relationships by means of a rare β‐thalassemia haplotype
Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)
Tay‐Sachs disease‐causing mutations and neutral polymorphisms in the Hex A gene
A five‐basepair deletion (7118 delTTTTA) identified within neurofibromatosis NF1 exon 39
NF1 mutation analysis using a combined heteroduplex/SSCP approach
Glycogenosis type II: A juvenile‐specific mutation with an unusual splicing pattern and a shared mutation in African Americans ✓ African Americans
A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry ✓ Moroccans of Berber ancestry
Identification of 31 novel mutations in the N‐acetylgalactosamine‐6‐sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome
Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein‐1 (REP1) gene
Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy
Screening and biochemical characterization of transthyretin variants in the Portuguese population
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia
Strategy for identification of sequence variants in COL7A1 and a novel 2‐bp deletion mutation in recessive dystrophic epidermolysis bullosa
Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis
Molecular heterogeneity of classical and duarte galactosemia: Mutation analysis by denaturing gradient gel electrophoresis
Novel point mutations in the dystrophin gene
Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients
Human APRT deficiency: Indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand‐templated repair ✓
Hunter disease in a girl caused by R468Q mutation in the iduronate‐2‐sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele
The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: Usefulness and limitations
Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population
Mutations in the GTP cyclohydrolase I and 6‐pyruvoyl‐tetrahydropterin synthase genes
Six novel mutations in the emerin gene causing X‐linked Emery‐Dreifuss muscular dystrophy
Charcot‐Marie‐Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families
Oligonucleotide micro‐arrays for identification of unknown mutations: how far from reality?
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)
The molecular basis of X‐linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation
A novel mutation (L174R) in the Ca2‐sensing receptor gene associated with familial hypocalciuric hypercalcemia
Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence ✓ Ashkenazi Jews
Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: A novel mutation in exon 3
Evidence for founder effect of the glu104asp substitution and identification of new mutations in triosephosphate isomerase deficiency
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids
Imprinting mutations on human chromosome 15
Cystic fibrosis mutation frequencies in upstate New York
Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects
Mutations of the androgen receptor gene in patients with complete androgen insensitivity
Novel missense mutation in the coagulation factor IX catalytic domain associated with moderate disease
Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis
Phenylketonuria splice mutation (EXON6nt‐96Ag) masquerading as missense mutation (Y204C)
Introduction of a myc reporter tag to improve the quality of mutation detection using the protein truncation test
E380D: A novel point mutation of CYP21 in an HLA‐homozygous patient with salt‐losing congenital adrenal hyperplasia due to 21‐hydroxylase deficiency
A clinical overview of WT1 gene mutations
A high incidence of mutations in exon 6 of the low‐density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation
Complex trinucleotide repeat polymorphism in the HOX B6 gene
G→T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview
Prediction of multiple hypermutable codons in the human PAH gene: Codon 280 contains recurrent mutations in Quebec and other populations
Novel nonsense mutation (W302X) in the steroid 21‐hydroxylase gene of a Finnish patient with the salt‐wasting form of congenital adrenal hyperplasia ✓ Finnish
Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and ΔM1140
Ornithine transcarbamylase deficiency: Ten new mutations and high proportion of de novo mutations in heterozygous females
Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion
Recurrent COL3A1 mutation results in EDS IV or familial aneurysms
A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus‐Merzbacher disease
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease
Characterization of a deletion mutation involving exons 3–7 of the WASP gene detected in a patient with Wiskott‐Aldrich syndrome
Identification of two novel LDL receptor gene defects in French‐Canadian pediatric population: Mutational analysis and biochemical studies ✓ French-Canadian
Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population
Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I def
Hereditary nonpolyposis colorectal cancer (HNPCC): Eight novel germline mutations in hMSH2 or hMLH1 genes
Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the β‐hexosaminidase α‐chain gene in two Portuguese patients
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency
Novel mutation of the myelin P0 gene in a CMT1B family
CTG trinucleotide repeat lengths in myotonic dystrophy alleles of patients with senile cataracts
Three germline mutations in the TP53 gene
Mutational analysis of the hMLH1 gene using an automated two‐dimensional DNA typing system
Quantitative allele‐specific PCR: Demonstration of age‐associated accumulation in human tissues of the A→G mutation at nucleotide 3243 in mitochondrial DNA
Detection of mutations in multi‐exon genes: Comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations
Novel G16S (GGC‐AGC) mutation in the SOD1 gene in a patient with apparently sporadic young‐onset amyotrophic lateral sclerosis
Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndrome
New evidence for a mutation hotspot in exon 37 of the NF1 gene
Serine for glycine substitutions in the C‐terminal third of the α1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta
Three novel point mutations in the dystrophin gene in DMD patients
Frequency of RET mutations in long‐ and short‐segment Hirschsprung disease
Mutations in purine nucleoside phosphorylase deficiency
E280A PS‐1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles
Screening for ESR mutations in breast and ovarian cancer patients
Mutations in SRY and SOX9: Testis‐determining genes