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Article

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

The British journal of dermatology - 1 Feb 2001

Ashton G H, Sorelli P, Mellerio J E, Keane F M, Eady R A, McGrath J A

Abstract excerpt

Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) (MIM 226730) is an autosomal recessive disorder resulting from mutations in the genes encoding alpha 6 beta 4 integrin (ITGA6 and ITGB4). Clinically, it is characterized by mucocutaneous fragility and gastrointestinal atresia, which most commonly affects the pylorus. Additional features of JEB-PA include involvement of the urogenital tract, aplasia...

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Topics

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Share to Antigens, Surface
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11251584
DOI: 10.1046/j.1365-2133.2001.04038.x

Genes

ITGB4
ITGA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.PMID 11251584Read ↗

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