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Article

Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Köbner-type epidermolysis bullosa simplex.

The Journal of dermatology - 1 Oct 2006

Saeki Hidehisa, Nakamura Kensuke, Tsunemi Yuichiro, Komine Mayumi, Tamaki Kunihiko

Abstract excerpt

We describe a 19-year-old Japanese male with Köbner-type epidermolysis bullosa simplex (EBS-KB) with a novel keratin gene mutation. The patient developed blisters on the feet, palms, elbows and knees soon after birth. His father is similarly affected with blistering, but his mother and younger brother are not affected. Histological examination revealed that the primary separation in the blister occurred within...

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Identifiers

PMID: 17040498
DOI: 10.1111/j.1346-8138.2006.00160.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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