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Article

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

The British journal of dermatology - 1 Aug 2006

Yasukawa K, Sawamura D, Goto M, Nakamura H, Jung S-Y, Kim S-C, Shimizu H

Abstract excerpt

BACKGROUND: Epidermolysis bullosa simplex (EBS) comprises a group of hereditary bullous diseases characterized by intraepidermal blistering caused by mutations in either keratin gene, KRT5 or KRT14. Significant correlation between the position of mutations within these proteins and the clinical severity of EBS has been noted. A recent report showed EBS cases in Israel had unique genetic features compared with...

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Source

Identifiers

PMID: 16882168
DOI: 10.1111/j.1365-2133.2006.07285.x

Genes

KRT5
KRT14

Variants

Provenance

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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