Published in
BMJ Publishing Group, Gut, 1(63), p. 96-104, 2012
DOI: 10.1136/gutjnl-2012-303581
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Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α.
Journal article published in 2012 by
Matthew A. Brooke,
Hj Longhurst,
Vincent Plagnol 
,
Ns Kirkby,
Ja Mitchell,
Franz Rüschendorf,
Td Warner,
Dp Kelsell,
Thomas Tt MacDonald
,
Ns Kirkby,
Ja Mitchell,
Franz Rüschendorf,
Td Warner,
Dp Kelsell,
Thomas Tt MacDonald
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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.