Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.

doi:10.1038/ng1193-294

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Article

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.

Nature genetics - 1 Nov 1993

Rugg E L, Morley S M, Smith F J, Boxer M, Tidman M J, Navsaria H, Leigh I M, Lane E B

Abstract excerpt

We have identified mutations in keratins K5 (Arg331Cys) and K14 (Val270Met) in two kinships affected by the dominantly-inherited skin blistering disease, Weber-Cockayne epidermolysis bullosa simplex (EBS-WC). Linkage analysis, DNA sequencing and clinical and ultrastructural analysis are combined to provide the first detailed description of classical EBS-WC. Both phenotypes show similar blistering on trauma,...

Topics

Age of Onset
Amino Acid Sequence
Base Sequence
Cells, Cultured
Child
Child, Preschool
Cytoskeleton
DNA Primers
Epidermolysis Bullosa Simplex
Female
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Keratins

Male

Microscopy, Electron

Molecular Sequence Data

Mutation

Phenotype

Source

Open in PubMed

Identifiers

PMID: 7506097
DOI: 10.1038/ng1193-294

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7506097-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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