The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease

Cuthbert, Andrew P., Fisher, Sheila A., Mirza, Muddassar M., King, Kathy, Hampe, Jochen, Croucher, Peter J. P., Mascheretti, Silvia, Sanderson, Jeremy, Forbes, Alastair ORCID: https://orcid.org/0000-0001-7416-9843, Mansfield, John, Schreiber, Stefan, Lewis, Cathryn M. and Mathew, Christopher G. (2002) The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology, 122 (4). pp. 867-874. ISSN 0016-5085

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Abstract

Mutations in the NOD2 gene are strongly associated with susceptibility to Crohn's disease (CD). We analyzed a large cohort of European patients with inflammatory bowel disease to determine which mutations confer susceptibility, the degree of risk conferred, their prevalence in familial and sporadic forms of the disease, and whether they are associated with site of disease.

Item Type: Article
Uncontrolled Keywords: carrier proteins,cohort studies,colon,crohn disease,family health,female,frameshift mutation,genetic linkage,genetic predisposition to disease,humans,ileum,intracellular signaling peptides and proteins,male,mutation, missense,nod2 signaling adaptor protein,phenotype,polymorphism, single nucleotide,proteins,risk factors
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups: Faculty of Medicine and Health Sciences > Research Groups > Gastroenterology and Gut Biology
Faculty of Medicine and Health Sciences > Research Groups > Nutrition and Preventive Medicine
Depositing User: Pure Connector
Date Deposited: 06 Aug 2014 10:40
Last Modified: 09 Aug 2023 10:30
URI: https://ueaeprints.uea.ac.uk/id/eprint/49581
DOI: 10.1053/gast.2002.32415

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