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Article

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex

1 Apr 1993

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 7526933
DOI: 10.1038/ng0493-327

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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.

Related research

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A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplexPMID 7526933Read ↗

Novel Ala94Thr mutation of keratin 14 in epidermolysis bullosa simplex.Semantic proximity Read ↗

A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.Semantic proximity Read ↗

A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.Semantic proximity Read ↗

A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex in a Chinese family.Semantic proximity Read ↗

A keratin K14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex.Semantic proximity Read ↗

Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.Semantic proximity Read ↗

A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex.Semantic proximity Read ↗

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex.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 ↗

A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.Semantic proximity Read ↗

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa SimplexSemantic proximity Read ↗

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.Semantic proximity Read ↗

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