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Article

Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex.

Experimental dermatology - 1 Aug 2003

Sørensen Charlotte B, Andresen Brage S, Jensen Uffe B, Jensen Thomas G, Jensen Peter K A, Gregersen Niels, Bolund Lars

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is a group of autosomal dominantly inherited skin disorders characterized by the development of intra-epidermal skin blisters on mild mechanical trauma. The three major clinical subtypes (Weber-Cockayne, Koebner and Dowling-Meara) are all caused by mutations in either the keratin 5 (KRT5) or keratin 14 (KRT14) gene. Previously, we identified three novel KRT14 missense mutations...

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Identifiers

PMID: 12930305
DOI: 10.1034/j.1600-0625.2002.120416.x

Genes

KRT14
KRT5

Provenance

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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