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Article

Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).

The American journal of pathology - 1 Jan 1998

Pulkkinen L, Kim D U, Uitto J

Abstract excerpt

Epidermolysis bullosa with pyloric atresia (EB-PA; OMIM 226730) is a clinically and genetically heterogeneous autosomal recessive blistering disorder, including lethal and nonlethal variants. Recently, expression of alpha6beta4 integrin, a transmembrane protein of the epithelial basement membranes, has been shown to be altered in these patients. In this work, we have explored the molecular pathology of the lethal...

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Source

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Identifiers

PMID: 9422533
PMCID: PMC1858138

Genes

ITGB4

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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Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).PMID 9422533Read ↗

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Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin.Semantic proximity Read ↗

Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.Semantic proximity Read ↗

Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.Semantic proximity Read ↗

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).Semantic proximity Read ↗

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A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.Semantic proximity Read ↗

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