A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.

doi:10.1111/1523-1747.ep12607050

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Article

A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.

The Journal of investigative dermatology - 1 May 1995

Ehrlich P, Sybert V P, Spencer A, Stephens K

Abstract excerpt

The Weber-Cockayne subtype of epidermolysis bullosa simplex is an inherited skin-fragility disorder characterized by basal keratinocyte lysis and epidermal blistering confined primarily to the hands and feet. The disorder results from a mutation in either the keratin 5 or keratin 14 gene, which e...

Topics

Base Sequence
Epidermolysis Bullosa Simplex
Female
Genes, Dominant
Humans
Keratins
Male
Molecular Sequence Data
Mutation
Pedigree

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