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Article

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α.

Gut - 1 Jan 2014

Brooke Matthew A, Longhurst Hilary J, Plagnol Vincent, Kirkby Nicholas S, Mitchell Jane A, Rüschendorf Franz, Warner Timothy D, Kelsell David P, MacDonald Thomas T

Abstract excerpt

OBJECTIVE: Cryptogenic multifocal ulcerating stenosing enteritis (CMUSE) is an extremely rare, but devastating, disease of unknown aetiology. We investigated the genetic basis of this autosomal recessive condition in a pair of affected siblings who have 40-year histories of catastrophic gastrointestinal and extraintestinal disease. DESIGN: Genome-wide single-nucleotide polymorphism homozygosity mapping in the two...

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PMID: 23268370
DOI: 10.1136/gutjnl-2012-303581

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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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