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Article

Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Jul 2000

Mayuzumi N, Shigihara T, Ikeda S, Ogawa H

Abstract excerpt

Recently, mutations of keratin 1 gene (KRT1) and keratin 10 gene (KRT10) have been reported in various patients with bullous congenital ichthyosiform erythroderma (BCIE). The substitution of arginine (R) to histidine (H) at amino acid residue 156 (R156H) of coiled 1A region is one of the most frequent mutations of KRT10. In this study, we searched for a mutation in KRT1 and KRT10 in a Japanese family with BCIE...

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Source

Identifiers

PMID: 11204523
DOI: 10.1046/j.1468-3083.2000.00101.x

Genes

KRT10
KRT1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.PMID 11204523Read ↗

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New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy.Semantic proximity Read ↗

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