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Article

A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.

Experimental dermatology - 1 May 2004

Liovic M, Bowden P E, Marks R, Komel R

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is a group of predominantly autosomal dominant hereditary disorders of the skin, which manifest as superficial skin blisters after minimal mechanical trauma. Three subtypes have been defined, based on clinical severity. Mutations affecting the genes encoding the epidermal keratins 5 (K5) and 14 (K14) have been linked to the disease, and generally those affecting the helix...

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Source

Identifiers

PMID: 15140024
DOI: 10.1111/j.0906-6705.2004.00171.x

Genes

KRT14
KRT5

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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A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.PMID 15140024Read ↗

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