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Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations...

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1753477340

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

About this item

Full title

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

Publisher

England

Journal title

Gut, 2014-01, Vol.63 (1), p.96-104

Language

English

Formats

Publication information

Publisher

England

More information

Scope and Contents

Contents

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...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1753477340

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1753477340

Other Identifiers

ISSN

0017-5749

E-ISSN

1468-3288

DOI

10.1136/gutjnl-2012-303581

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