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Article

A keratin K14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex.

Journal of dermatological science - 1 Jan 1996

Umeki K, Nomura K, Harada K, Hashimoto I

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is caused by an aberration of the keratin intermediate filaments and recent studies indicated causal mutations in the keratin K14 and K5 genes. In this study, we examined keratin K14/5 gene mutation in a Japanese patient with EBS Dowling-Meara (EBSDM). The pati...

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Source

Identifiers

PMID: 8867769
DOI: 10.1016/0923-1811(95)00421-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8867769-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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