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Article

Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.

Nature genetics - 1 Jun 1995

Vidal F, Aberdam D, Miquel C, Christiano A M, Pulkkinen L, Uitto J, Ortonne J P, Meneguzzi G

Abstract excerpt

Pyloric atresia associated with junctional epidermolysis bullosa (PA-JEB), is a rare inherited disorder characterized by pyloric stenosis and blistering of the skin as primary manifestations. We demonstrate that in one PA-JEB patient the disease resulted from two distinct mutations in the beta 4 integrin gene alleles. The paternal mutation consists of a one base pair deletion causing a shift in the open reading...

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Identifiers

PMID: 7545057
DOI: 10.1038/ng0695-229

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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.

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