Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations...
Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α
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England
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Language
English
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England
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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-wid...
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Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α
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TN_cdi_proquest_miscellaneous_1753477340
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1753477340
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ISSN
0017-5749
E-ISSN
1468-3288
DOI
10.1136/gutjnl-2012-303581