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One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex.

Clinical and experimental dermatology - 1 Dec 2009

Tang H Y, Du W D, Cui Y, Fan X, Quan C, Fang Q Y, Zhou F S, Yao F M, Wang J F, Yang S, Zhang X

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is a group of inherited skin diseases, characterized by the formation of intraepidermal blisters. We performed genetic analysis of the keratin 5 (KRT5) gene in two Chinese pedigrees. One novel missense mutation was identified in a patient with sporadic EBS (gen...

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Source

Identifiers

PMID: 20055872
DOI: 10.1111/j.1365-2230.2009.03703.x

Genes

KRT5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20055872-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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