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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 encode the peptide components of the obligate heterodimeric keratin intermediate filaments of the basal cell. We have...

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Identifiers

PMID: 7537780
DOI: 10.1111/1523-1747.ep12607050

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.PMID 7537780Read ↗

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