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Article

Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

The Journal of investigative dermatology - 1 Dec 2002

Jonkman Marcel F, Pas Hendri H, Nijenhuis Miranda, Kloosterhuis Guus, Steege Gerritvander

Abstract excerpt

Integrin alpha6beta4 is a hemidesmosomal transmembrane molecule involved in maintaining basal cell-matrix adhesion through interaction of the large intracytoplasmic tail of the beta4 subunit with the keratin intermediate filament network, at least in part through its binding with plectin and BP180/type XVII collagen. Here we report a patient with predominant features of epidermolysis bullosa simplex due to a...

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Source

Identifiers

PMID: 12485428
DOI: 10.1046/j.1523-1747.2002.19609.x

Genes

ITGB4

Provenance

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.

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Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.PMID 12485428Read ↗

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