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Article

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.

Human molecular genetics - 1 May 1997

Pulkkinen L, Kimonis V E, Xu Y, Spanou E N, McLean W H, Uitto J

Abstract excerpt

Junctional epidermolysis bullosa with congenital pyloric or duodenal atresia is a distinct variant within this group of autosomal recessive blistering skin diseases. In this study we demonstrate, for the first time, a homozygous mutation in the alpha6 integrin gene (ITGA6) in a family with three affected individuals. For this purpose, we first determined the genomic organization of ITGA6, and placed the gene on...

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Source

Identifiers

PMID: 9158140
DOI: 10.1093/hmg/6.5.669

Genes

ITGA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.PMID 9158140Read ↗

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