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Article

Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.

Archives of dermatological research - 1 Jun 2005

Hamada Takahiro, Kawano Yuko, Szczecinska Weronika, Wozniak Katarzyna, Yasumoto Shinichiro, Kowalewski Cezary, Hashimoto Takashi

Abstract excerpt

Mutation analysis in keratins 5/14 (K5/14) had been performed in five Polish families with epidermolysis bullosa simplex (EBS) to extend genotype-phenotype correlation and to add to the mutation database. All the patients had been clinically classified into two subtypes of EBS; Weber-Cockayne (EBS-WC) and Dowling-Meara (EBS-DM) as well as one case of EBS with mottled pigmentation (EBS-MP). DNA from patients and...

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PMID: 15827748
DOI: 10.1007/s00403-005-0560-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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