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Article

Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.

The Journal of investigative dermatology - 1 Nov 2001

Cummins R E, Klingberg S, Wesley J, Rogers M, Zhao Y, Murrell D F

Abstract excerpt

Epidermolysis bullosa simplex is a heterogeneous group of inherited bullous disorders due to mutations in keratins 5 and 14. We report two different mutations in keratin 14 at codon 119 of the helix initiation peptide, each with different phenotypic expression. One, a sporadic case that clinically resembles Dowling-Meara epidermolysis bullosa simplex, resulted from conversion of methionine to threonine (M119T)....

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Identifiers

PMID: 11710919
DOI: 10.1046/j.0022-202x.2001.01508.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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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