Human Mutation: Vol 14, No 1

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Human Mutation

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IARC p53 mutation database: A relational database to compile and analyze p53 mutations in human tumors and cell lines

A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency

C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian gypsy population

Identification of a common PEX1 mutation in Zellweger syndrome

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes

No linkage of P187S polymorphism in NAD(P)H: Quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population

A methylation PCR approach for detection of fragile X syndrome

Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis

WRN mutations in Werner Syndrome

Corrigenda

Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia

Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations

Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations

Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C] in Spanish Gaucher disease patients

Spectrum of CFTR mutations in the middle north of Spain and identification of a novel mutation (1341G→A)

Identification of novel mutations in the PCCB gene in European propionic acidemia patients

A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease

A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia

Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia

Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis

Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia

Erratum: Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site

A novel intragenetic PVUII marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene (CHRNA4) ^†

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IARC p53 mutation database: A relational database to compile and analyze p53 mutations in human tumors and cell lines

A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency

C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian gypsy population

Identification of a common PEX1 mutation in Zellweger syndrome

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes

No linkage of P187S polymorphism in NAD(P)H: Quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population

A methylation PCR approach for detection of fragile X syndrome

Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis

WRN mutations in Werner Syndrome

Corrigenda

Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia

Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations

Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations

Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C] in Spanish Gaucher disease patients

Spectrum of CFTR mutations in the middle north of Spain and identification of a novel mutation (1341G→A)

Identification of novel mutations in the PCCB gene in European propionic acidemia patients

A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease

A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia

Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia

Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis

Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia

Erratum: Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site

A novel intragenetic PVUII marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene (CHRNA4) †

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A novel intragenetic PVUII marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene (CHRNA4) ^†