Human Mutation: Vol 7, No 4

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Human Mutation

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Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases

CDKN2A (p16^INK4A) 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 the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer

Mutations in the BRCA1 gene in Japanese breast cancer patients

Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100

Mutation detection by solid phase primer extension

Pelizaeus-Merzbacher disease: A novel mutation in the 5′-untranslated region of the proteolipid protein gene

A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus

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

Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans

Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease

A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of croatian origin

A donor splice site mutation (1811+1G→C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin

Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients

Identification of a novel PAX6 gene mutation in an Aniridia patient

Identification of a 4 bp deletion (1560de14) in Po gene in a family with severe charcot-Marie-Tooth disease

Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation

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Masthead

Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases

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 the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer

Mutations in the BRCA1 gene in Japanese breast cancer patients

Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100

Mutation detection by solid phase primer extension

Pelizaeus-Merzbacher disease: A novel mutation in the 5′-untranslated region of the proteolipid protein gene

A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus

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

Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans

Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease

A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of croatian origin

A donor splice site mutation (1811+1G→C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin

Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients

Identification of a novel PAX6 gene mutation in an Aniridia patient

Identification of a 4 bp deletion (1560de14) in Po gene in a family with severe charcot-Marie-Tooth disease

Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation

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CDKN2A (p16^INK4A) somatic and germline mutations

Deletion of Gly⁷²³ in the insulin receptor substrate-1 of a patient with noninsulin-dependent diabetes mellitus