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Article

A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.

The Journal of investigative dermatology - 1 Dec 1997

Irvine A D, McKenna K E, Bingham A, Nevin N C, Hughes A E

Abstract excerpt

Epidermolysis bullosa simplex Dowling-Meara (MIM# 1317600) is the most severe of the three common epidermolysis bullosa simplex subtypes. In addition to the palmoplantar distribution seen in other epidermolysis bullosa simplex subtypes, extensive herpetiform blistering spontaneously develops on the trunk and limbs and may lead to scarring or milia formation. The keratin 5 and keratin 14 genes encode proteins that...

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Identifiers

PMID: 9406827
DOI: 10.1111/1523-1747.ep12341024

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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.

Related research

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A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.PMID 9406827Read ↗

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.Semantic proximity Read ↗

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

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.Semantic proximity Read ↗

In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation.Semantic proximity Read ↗

A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.Semantic proximity Read ↗

Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.Semantic proximity Read ↗

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

A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.Semantic proximity Read ↗

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.Semantic proximity Read ↗

A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe palmoplantar hyperkeratosis and contractures of the digits.Semantic proximity Read ↗

Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.Semantic proximity Read ↗

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.Semantic proximity Read ↗

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