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Article

A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.

The Journal of dermatology - 1 Mar 2002

Gu Li-Hong, Ichiki Yoshiro, Sato Miki, Kitajima Yasuo

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is classified into three main types and is caused, in most cases, by missense mutations in the genes encoding keratin (K) 5 and K14. In this study, we clinically, ultrastructurally, immunohistochemically, and molecularly studied a patient with a dominant EBS, Köbner type. Using sequence analysis of genomic DNA, a novel K14 nonsense mutation was identified. A heterozygous...

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Source

Identifiers

PMID: 11990248
DOI: 10.1111/j.1346-8138.2002.tb00236.x

Genes

KRT14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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