Human Mutation: Vol 13, No 3

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Human Mutation

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Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects

Mutant transcripts of the LDL receptor gene: mRNA structure and quantity

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence ^†

A novel heteroplasmic point mutation in the mitochondrial tRNA^Lys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring

Novel mutations associated with carnitine palmitoyltransferase II deficiency

Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansion

The FANCA gene in Japanese Fanconi anemia: Reports of eight novel mutations and analysis of sequence variability

Repopulation of ρ⁰ cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA^Gly results in respiratory chain dysfunction ^†

Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease

Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients

Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations

Peutz-Jeghers syndrome: Four novel inactivating germline mutations in the STK11 gene

β-thalassemia in the German population: Mediterranean, Asian and novel mutations

Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients

X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1 ^†

A novel 5-bp deletion in exon 30 of the neurofibromatosis type 1 (NF1) gene ^†

A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele

A novel missense mutation 14259 G>A in the mitochondrial NADH dehydrogenase 6 gene (MTND6) ^†

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Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects

Mutant transcripts of the LDL receptor gene: mRNA structure and quantity

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence †

A novel heteroplasmic point mutation in the mitochondrial tRNALys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring

Novel mutations associated with carnitine palmitoyltransferase II deficiency

Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansion

The FANCA gene in Japanese Fanconi anemia: Reports of eight novel mutations and analysis of sequence variability

Repopulation of ρ0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction †

Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease

Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients

Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations

Peutz-Jeghers syndrome: Four novel inactivating germline mutations in the STK11 gene

β-thalassemia in the German population: Mediterranean, Asian and novel mutations

Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients

X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1 †

A novel 5-bp deletion in exon 30 of the neurofibromatosis type 1 (NF1) gene †

A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele

A novel missense mutation 14259 G>A in the mitochondrial NADH dehydrogenase 6 gene (MTND6) †

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Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence ^†

A novel heteroplasmic point mutation in the mitochondrial tRNA^Lys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring

Repopulation of ρ⁰ cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA^Gly results in respiratory chain dysfunction ^†

X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1 ^†

A novel 5-bp deletion in exon 30 of the neurofibromatosis type 1 (NF1) gene ^†

A novel missense mutation 14259 G>A in the mitochondrial NADH dehydrogenase 6 gene (MTND6) ^†