Human Mutation: Vol 9, No 6

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Human Mutation

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The clinical spectrum of type IV collagen mutations

Mutations in the adrenoleukodystrophy gene

Nine novel L1 CAM mutations in families with X-linked hydrocephalus

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy

Screening for ESR mutations in breast and ovarian cancer patients

Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis

NF1 mutation analysis using a combined heteroduplex/SSCP approach

Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: Mutational analysis and biochemical studies

Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: Analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging

An efficient and reliable multiplex PCR-SSCP mutation analysis test applied to the human E-cadherin gene

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Human Mutation

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The clinical spectrum of type IV collagen mutations

Mutations in the adrenoleukodystrophy gene

Nine novel L1 CAM mutations in families with X-linked hydrocephalus

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy

Screening for ESR mutations in breast and ovarian cancer patients

Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis

NF1 mutation analysis using a combined heteroduplex/SSCP approach

Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: Mutational analysis and biochemical studies

Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: Analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging

An efficient and reliable multiplex PCR-SSCP mutation analysis test applied to the human E-cadherin gene

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