Human Mutation: Vol 19, No 2

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Human Mutation

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New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene

Mutations and polymorphisms in the human ornithine transcarbamylase gene

Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile–adult DM1

Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan

Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein

A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations

A robust method for detecting CHK2/RAD53 mutations in genomic DNA

A quite different view of Maori origins: Genetic evidence of pre-19th century European settlement in New Zealand

The enigma of the San Lesmes (response to Langdon, 2002)

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness ^†

BRCA1 and BRCA2 mutations in Russian familial breast cancer ^† ^‡

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B ^† ^‡

Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population ^† ^‡

Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency ^† ^‡

Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene ^† ^‡

Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations ^† ^‡

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New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene

Mutations and polymorphisms in the human ornithine transcarbamylase gene

Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile–adult DM1

Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan

Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein

A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations

A robust method for detecting CHK2/RAD53 mutations in genomic DNA

A quite different view of Maori origins: Genetic evidence of pre-19th century European settlement in New Zealand

The enigma of the San Lesmes (response to Langdon, 2002)

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness †

BRCA1 and BRCA2 mutations in Russian familial breast cancer † ‡

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B † ‡

Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population † ‡

Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency † ‡

Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene † ‡

Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations † ‡

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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness ^†

BRCA1 and BRCA2 mutations in Russian familial breast cancer ^† ^‡

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B ^† ^‡

Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population ^† ^‡

Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency ^† ^‡

Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene ^† ^‡

Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations ^† ^‡