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Article

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.

Journal of dermatological science - 1 Feb 2010

Kang Tae-Won, Lee Jeong Seon, Kim Song-Ee, Oh Se-Woong, Kim Soo-Chan

Abstract excerpt

BACKGROUNDS: Epidermolysis bullosa simplex (EBS) is a group of hereditary bullous disorders caused by mutations in the keratin genes KRT5 and KRT14. A significant genotype-phenotype correlation has been noted in previous studies of EBS. OBJECTIVE: In order to identify additional EBS mutations and...

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Source

Identifiers

PMID: 20060687
DOI: 10.1016/j.jdermsci.2009.12.002

Genes

KRT14
KRT5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20060687-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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