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Journal article

From genes to mechanisms: the expanding spectrum of monogenic disorders associated with inflammatory bowel disease

Abstract:

Inborn errors of the intestinal epithelial barrier function as well as the innate and adaptive mucosal immune responses toward the intestinal microbiota are a group of genetic disorders that confer susceptibility to monogenic and syndromal forms of inflammatory bowel disease (IBD). There is a continuous spectrum of genetic susceptibility from monogenic causative variants with complete Mendelian inheritance, over NOD2 variants with moderate penetrance to minute penetrance in most common suscep...

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Publication status:
Published
Peer review status:
Peer reviewed

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
NDM Experimental Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
NDM Experimental Medicine
Role:
Author
More from this funder
Funding agency for:
Schwerd, T
Grant:
SCHW1730/1–1
Publisher:
Lippincott, Williams and Wilkins Publisher's website
Journal:
Inflammatory bowel diseases Journal website
Volume:
22
Issue:
1
Pages:
202-212
Publication date:
2016-01-01
DOI:
EISSN:
1536-4844
ISSN:
1078-0998
Source identifiers:
602214
Language:
English
Keywords:
Pubs id:
pubs:602214
UUID:
uuid:61684334-e433-4066-987f-865f61b39db7
Local pid:
pubs:602214
Deposit date:
2016-02-14

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