Human Mutation: Vol 2, No 3

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Human Mutation

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Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene

Mutations and polymorphisms in the prion protein gene

Mutations and polymorphisms in the human ornithine transcarbamylase gene

Molecular characterisation of Vietnamese HPFH

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations

Exon 44 nonsense mutation in two-duchenne muscular dystrophy brothers detected by heteroduplex analysis

Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta

A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa

Molecular studies of mitochondrial acetoacetyl-coenzyme a thiolase deficiency in the two original families

Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: α₁-antitrypsin deficiency variant P_duarte

A molecular approach to estimating the human deleterious mutation rate

Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene

Phenylalanine hydroxylase gene: A novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria

The APC (adenomatous polyposis coli) gene: A novel mutation in an FAP patient and a DdeI polymorphism in the 5′ noncoding region

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Human Mutation

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Masthead

Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene

Mutations and polymorphisms in the prion protein gene

Mutations and polymorphisms in the human ornithine transcarbamylase gene

Molecular characterisation of Vietnamese HPFH

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations

Exon 44 nonsense mutation in two-duchenne muscular dystrophy brothers detected by heteroduplex analysis

Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta

A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa

Molecular studies of mitochondrial acetoacetyl-coenzyme a thiolase deficiency in the two original families

Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: α1-antitrypsin deficiency variant Pduarte

A molecular approach to estimating the human deleterious mutation rate

Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene

Phenylalanine hydroxylase gene: A novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria

The APC (adenomatous polyposis coli) gene: A novel mutation in an FAP patient and a DdeI polymorphism in the 5′ noncoding region

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Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: α₁-antitrypsin deficiency variant P_duarte