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

Brooke, MA; Longhurst, HJ; Plagnol, V; Kirkby, NS; Mitchell, JA; Rüschendorf, F; ... MacDonald, TT; + view all (2014) Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α. Gut , 63 (1) 96 - 104. 10.1136/gutjnl-2012-303581.

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Abstract

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.

Type:Article
Title:Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α.
Location:England
DOI:10.1136/gutjnl-2012-303581
Language:English
Keywords:Gene Mutation, Inflammatory Bowel Disorders, Non-Steroidal Anti-Inflammatory Drugs, Adult, Biological Markers, Blotting, Western, Case-Control Studies, Codon, Nonsense, Enteritis, Female, Fluorescent Antibody Technique, Frameshift Mutation, Genetic Markers, Group IV Phospholipases A2, Homozygote, Humans, Intestinal Obstruction, Male, Peptic Ulcer, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Sequence Deletion, Siblings
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute

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