Human Mutation - 1996

328 articles | Last updated: 2025-12-03 14:12:57

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Article Title	Cauc.		White		Euro.		Other		Phrases Used
Article Title	T	A	T	A	T	A	T	A	Phrases Used
Masthead
Erratum
Masthead
A novelnull mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of croatian origin							✓		croatian origin
Identification of a 4 bp deletion (1560de14) in Po gene in a family with severe charcot-Marie-Tooth disease
Two New Nonsense mutations (Q80X; Q389X) in patients with severe hunter syndrome ( mucopolysaccharidosis type II)
Announcement
Masthead
Masthead
A 66-Basepair insertion in Exon 6 of the α-L-fucosidase gene of a fucosidosis patient;
Announcement
A novel nonsense mutation,S466Xa in exon 10 of the cystic fibrosis transmembrane conductance regulator gene
Frameshift mutation at codon 642 of thehMLH1 gene in human endometrial cancer
Masthead
Mutations and Polymorphisms in the familial early-onset breast cancer (BRCA1) gene
Masthead
Erratum
Editorial
Masthead
Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa							✓		Spanish family
A novel mutation (S558X) causing choroideremia
Erratum
Announcement
Masthead
Update on nomenclature for human gene mutations
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient
Identification of a novel single base insertion in the adenomatous polyposis coli gene
Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: Detection of new mouse and human expressed polymorphisms
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure
A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome
Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arrays
Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia c gene,FAC
A novel missense mutation in the exon containing the putative ornithine‐binding domain of the OTC enzyme in a female
A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus
Identification of a donor splice site mutation leading to loss of p22‐ <i>phox</i> exon 5 in autosomal chronic granulomatous disease
Single base-pair substitutions in pathology and evolution: Two sides to the same coin
A sensitive mutation screening strategy for Fabry disease: Detection of nine mutations in the α-galactosidase A gene
Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses ofRET proto-oncogene mutations
Clinically applicable mutation screening in familial hypercholesterolemia
Four novel germline mutations of the APC gene
Mutation analysis of phenylketonuria in South Brazil
Detection of new variants in the apolipoprotein B (Apo B) gene by PCR-SSCP
Identification of two new nonsense mutations Q311X and W326X in Exon 2 of the adrenoleukodystrophy (ALD) gene
A novel mutation in theBRCA1 gene in a German early-onset breast cancer family							✓		German
Mutations in pyruvate kinase
Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease
Chimeric probe-mediated ribonuclease protection assay for molecular diagnosis of mRNA deficiencies
Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann–Pick disease type A and B
A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects							✓		Norwegian
Nonsense mutations in a Becker muscular dystrophy and an intermediate patient
Mutation analysis in 20 patients with Hunter disease
New point mutation (R243W) in the hormone binding domain of the c-erbA β1 gene in a family with generalized resistance to thyroid hormone
Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection
Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease
Mass allele detection (MAD) of rare 5-HT1A structural variants with allele-specific amplification and electrochemiluminescent detection
Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked alport syndrome
A newly identified aldolase B splicing mutation (G→C, 5′ intron 5) in hereditary fructose intolerance from New Zealand
Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy
Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene
Two novel (R(−11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds
Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa
A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients
A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus
Splice site mutation causing deletion of exon 21 sequences from the proα2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta
PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme
Fumarylacetoacetase mutations in tyrosinaemia type I
A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient
Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia
Somatic mutations of a human mismatch repair gene, hMLH1, in tumors from patients with multiple primary cancers
CDKN2A (p16INK4A) somatic and germline mutations
Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy
Mutation in the carboxy-terminal propeptide of the proα1 (I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): Possible implications for protein folding
Mutation of thehMSH2 gene in two families with hereditary nonpolyposis colorectal cancer
Mutations in the BRCA1 gene in Japanese breast cancer patients
Mutation detection by solid phase primer extension
Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome
Deletion of Gly723 in the insulin receptor substrate-1 of a patient with noninsulin-dependent diabetes mellitus
Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I
A donor splice site mutation (1811+1G→C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin							✓		patient of Macedonian origin
Identification of a novel PAX6 gene mutation in an Aniridia patient
DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: Detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations
Repeat offenders: Simple repeat sequences and complex genetic problems
Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
IDS gene-pseudogene exchange responsible for an intragenic deletion in a hunter patient
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome
Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland
Recurrence of thePROC gene mutation R178Q: Independent origins in Spanish protein C deficiency patients							✓		Spanish
Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant charcot-marie-tooth neuropathy
Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the β-globin gene
New mutation in the 3′-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family							✓		Basque family
Mutation pattern in clinically asymptomatic coagulation factor VII deficiency
Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews
Allele-specific measurement of low-density lipoprotein receptor transcript levels
Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphicCFTR DNA markers
Comprehensive and accurate mutation scanning of theCFTR gene by two-dimensional DNA electrophoresis
Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia
Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS→TVDQS)
New frameshift mutation in theDAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism
Charcot-Marie-Tooth type 1B neuropathy: A mutation at the single glycosylation site in the major peripheral myelin glycoprotein P0
Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene
Two new variants of RAG-1 protein predicted by SSCP
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis
Glucocerebrosidase (Gaucher disease)
Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene
An additional mitochondrial tRNAIle point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome
Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes
PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems
Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: Detection of two novel mutations
Unequal homologous crossing over resulting in duplication of 36 base pairs within Exon 47 of the COL4A5 gene in a family with Alport syndrome
Novel missense mutation (W686C) of the phosphofructokinase‐M gene in a Japanese patient with a mild form of glycogenosis VII							✓		Japanese patient
Phenylalanine hydroxylase deficiency in a population in Germany: Mutational profile and nine novel mutations
Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration
A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine—Sottas syndrome patients
A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia
Ornithine transcarbamylase deficiency: Characterization of gene mutations and polymorphisms
A rapid and reliable PCR method for genotyping the ABO blood group. II: A2 and O2 alleles
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency
A 3‐base pair in‐frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late‐onset hyperammonemic coma
Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia
A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia
A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)
A common base change in the promoter region of the human endothelial NO-synthase (NQS3) gene
Three novel APC gene mutations in portuguese FAP kindreds
Identification of a novel mutation (A268G) in exon 8 of the HTRβ gene in a large family with thyroid hormone resistance
Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency
A novel G499D substitution in the α1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV
Molecular genetics of human antithrombin deficiency
An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants
Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis
Detection ofRET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis
Molecular analysis of the TP53 gene in Barrett's adenocarcinoma
Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA
A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty
Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency: HPRT Heidelberg
Identification of two sporadically derived mutations in the Von Hippel-Lindau gene
Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta
Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene
Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses
Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations							✓		Korean and Chinese (Taiwanese) populations
Sensitive and fast mutation detection by solid phase chemical cleavage
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β‐glucocerebrosidase gene in Gaucher's disease patients
Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100
Pelizaeus-Merzbacher disease: A novel mutation in the 5′-untranslated region of the proteolipid protein gene
Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African‐Americans
Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients
Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation							✓		Finnish
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia
A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency
Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome
Mutation nomenclature: Nicknames, systematic names, and unique identifiers
Ethnic difference in the pattern of K-ras oncogene mutations in human colorectal cancers
Two novel mutations (C53S, S26L) in the connexin32 of Charcot‐Marie‐Tooth disease type X families
A familial deletion in the Prader-Willi syndrome region including the imprinting control region
New frameshift mutation, insertion of A, at codon 95 of the β-globin gene causes β-thalassemia in two Vietnamese families
Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene
Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity
Mutation characterization ofCFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for 94% of CF chromosomes
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
Absence ofPMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot-marie-tooth disease type 1A
Stop codon in exon 30 (E2069X) of β-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya
A point mutation in codon 3 of connexin‐32 is associated with X‐linked charcot‐marie‐tooth neuropathy
A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease
Crouzon syndrome: Previously unrecognized deletion, duplication, and point mutation within FGFR2 gene
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia
Novel mutations and polymorphisms in the Fanconi anemia group C gene
Detection of new variants in the apolipoprotein B (Apo B) gene by PCR‐SSCP
Nonsense mutations in a Becker muscular dystrophy and an intermediate patient
New point mutation (R243W) in the hormone binding domain of the c‐erbA β1 gene in a family with generalized resistance to thyroid hormone
An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants
Recurrent 2‐bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis
Molecular analysis of the TP53 gene in Barrett's adenocarcinoma
Rapid detection of point mutations and polymorphisms of the α‐globin genes by DGGE and SSCA
Novel mutations in the connexin 32 gene associated with X‐linked Charcot‐Marie tooth disease
Two novel (R(−11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds
A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta
Cystic fibrosis mutation detection by hybridization to light‐generated DNA probe arrays
Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia c gene, FAC
Somatic mutations of a human mismatch repair gene, hMLH1, in tumors from patients with multiple primary cancers
CDKN2A (p16INK4A) somatic and germline mutations
Mutations in the BRCA1 gene in Japanese breast cancer patients
Deletion of Gly723 in the insulin receptor substrate‐1 of a patient with noninsulin‐dependent diabetes mellitus
A donor splice site mutation (1811+1G→C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin							✓		Macedonian origin
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia
A 14‐bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency
Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia
Two new variants of RAG‐1 protein predicted by SSCP
Two novel mutations (C53S, S26L) in the connexin32 of Charcot‐Marie‐Tooth disease type X families
Novel missense mutation (W686C) of the phosphofructokinase‐M gene in a Japanese patient with a mild form of glycogenosis VII							✓		Japanese
Missense mutation in the paired domain of PAX3 causes craniofacial‐deafness‐hand syndrome
Clinically applicable mutation screening in familial hypercholesterolemia
Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations
Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X‐inactivation causing Lesch‐Nyhan syndrome in a female patient
Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann‐Pick disease type A and B
Identification of a novel single base insertion in the adenomatous polyposis coli gene
Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis
Advantages of RT‐PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: Detection of new mouse and human expressed polymorphisms
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene
A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients
Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus
Sensitive and fast mutation detection by solid phase chemical cleavage
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy
Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer
Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux‐Lamy syndrome
Identification of a novel PAX6 gene mutation in an Aniridia patient
Complete deficiency of plasma lecithin‐cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly‐30‐Ser) in the LCAT gene
Novel missense mutation of the connexin32 (GJB1) gene in X‐linked dominant charcot‐marie‐tooth neuropathy
Novel and unusual deletion‐insertion thalassemic mutation in exon 1 of the β‐globin gene
Mutation pattern in clinically asymptomatic coagulation factor VII deficiency
Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene
PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems
A familial deletion in the Prader‐Willi syndrome region including the imprinting control region
New frameshift mutation, insertion of A, at codon 95 of the β‐globin gene causes β‐thalassemia in two Vietnamese families							✓		Vietnamese
A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine—Sottas syndrome patients
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose‐1‐phosphate uridyltransferase (GALT) deficiency							✓		Italian patients
Crouzon syndrome: Previously unrecognized deletion, duplication, and point mutation within FGFR2 gene
Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan
Mass allele detection (MAD) of rare 5‐HT1A structural variants with allele‐specific amplification and electrochemiluminescent detection
New frameshift mutation in the DAX1 gene in a patient with X‐linked adrenal hypoplasia and hypogonadotropic hypogonadism
Identification of two new nonsense mutations Q311X and W326X in Exon 2 of the adrenoleukodystrophy (ALD) gene
Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations
A novel splice‐site mutation in the CD40L gene in a patient with X‐linked hyper‐IgM syndrome
Splice site mutation causing deletion of exon 21 sequences from the proα2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta
A 5‐megabase familial deletion removes the IDS and FMR‐1 genes in a male Hunter patient
A novel missense mutation in the exon containing the putative ornithine‐binding domain of the OTC enzyme in a female
Mutation in the carboxy‐terminal propeptide of the proα1 (I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): Possible implications for protein folding
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B‐100
Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome
Charcot‐Marie‐Tooth type 1B neuropathy: A mutation at the single glycosylation site in the major peripheral myelin glycoprotein P0
Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N‐acetylgalactosamine‐6‐sulfate sulfatase gene
Ethnic difference in the pattern of K‐ras oncogene mutations in human colorectal cancers
A novel deletion/inversion mutation in the low‐density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia
A 3‐base pair in‐frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late‐onset hyperammonemic coma
Three novel APC gene mutations in portuguese FAP kindreds
An additional mitochondrial tRNAIle point mutation (A‐to‐G at nucleotide 4295) causing hypertrophic cardiomyopathy
Mutations and polymorphisms in the human peripherin‐RDS gene and their involvement in inherited retinal degeneration
A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus
Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases
A novel G499D substitution in the α1(III) chain of type III collagen produces variable forms of Ehlers‐Danlos syndrome type IV
Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection
Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n‐acetylgalactosamine‐6‐sulfate sulfatase gene in a classical Morquio disease
Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African‐Americans
Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto‐oncogene mutations
Recurrence of the PROC gene mutation R178Q: Independent origins in Spanish protein C deficiency patients
New mutation in the 3′‐acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family							✓		Basque
Allele‐specific measurement of low‐density lipoprotein receptor transcript levels
Ornithine transcarbamylase deficiency: Characterization of gene mutations and polymorphisms
Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot‐marie‐tooth disease type 1A
A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia
A common base change in the promoter region of the human endothelial NO‐synthase (NQS3) gene
Mutations in pyruvate kinase
A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects
Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I
Repeat offenders: Simple repeat sequences and complex genetic problems
Single base‐pair substitutions in pathology and evolution: Two sides to the same coin
Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (‐R282), and 16 bp insertion/frameshift (K358SVS→TVDQS)
Sequence variation in intron of prion protein gene, crucial for complete diagnostic strategies
A sensitive mutation screening strategy for Fabry disease: Detection of nine mutations in the α‐galactosidase A gene
Complex cystic fibrosis allele R334W‐R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient
Two novel apolipoprotein A‐IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity
Stop codon in exon 30 (E2069X) of β‐spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot‐Marie‐Tooth disease
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure
A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male‐limited precocious puberty
Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa
Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation
IDS gene‐pseudogene exchange responsible for an intragenic deletion in a hunter patient
Population‐specific screening by mutation analysis for diseases frequent in Ashkenazi Jews
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis
A point mutation in codon 3 of connexin‐32 is associated with X‐linked charcot‐marie‐tooth neuropathy
Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C‐terminal domain of lipoprotein lipase causes familial chylomicronemia
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers
Chimeric probe‐mediated ribonuclease protection assay for molecular diagnosis of mRNA deficiencies
Mutation analysis in 20 patients with Hunter disease
Molecular genetics of human antithrombin deficiency
Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult‐onset X‐linked alport syndrome
Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine‐guanine phosphoribosyl‐transferase (HPRT) deficiency: HPRT Heidelberg
Identification of two sporadically derived mutations in the Von Hippel‐Lindau gene
PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β‐glucocerebrosidase gene in Gaucher's disease patients
Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR
DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: Detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations
Somatic stability of the expanded CAG trinucleotide repeat in X‐linked spinal and bulbar muscular atrophy
Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR‐coupled automated direct sequencing of genomic DNA: Detection of two novel mutations
Mutation analysis of phenylketonuria in South Brazil
Unequal homologous crossing over resulting in duplication of 36 base pairs within Exon 47 of the COL4A5 gene in a family with Alport syndrome
Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese							✓		Portuguese
Mutation characterization of CFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for 94% of CF chromosomes
A locus‐specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)
A novel mutation in the BRCA1 gene in a German early‐onset breast cancer family
Identification of a novel mutation (A268G) in exon 8 of the HTRβ gene in a large family with thyroid hormone resistance
A newly identified aldolase B splicing mutation (G→C, 5′ intron 5) in hereditary fructose intolerance from New Zealand
Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses
Fumarylacetoacetase mutations in tyrosinaemia type I
Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low‐density lipoprotein receptor gene are associated with familial hypercholesterolemia
Pelizaeus‐Merzbacher disease: A novel mutation in the 5′‐untranslated region of the proteolipid protein gene
Identification of a donor splice site mutation leading to loss of p22‐phox exon 5 in autosomal chronic granulomatous disease
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome
Comprehensive and accurate mutation scanning of the CFTR gene by two‐dimensional DNA electrophoresis
Four novel germline mutations of the APC gene
Mutation analysis in CD40 ligand deficiency leading to X‐linked hypogammaglobulinemia with hyper IgM syndrome
Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes
Phenylalanine hydroxylase deficiency in a population in Germany: Mutational profile and nine novel mutations
Independent origin of single and double mutations in the human glucose 6‐phosphate dehydrogenase gene
A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia
Glucocerebrosidase (Gaucher disease)
A rapid and reliable PCR method for genotyping the ABO blood group. II: A2 and O2 alleles
Mutation detection by solid phase primer extension
Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging
Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland
Mutation nomenclature: Nicknames, systematic names, and unique identifiers