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Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

Abstract:

BACKGROUND and AIMS: Very early onset inflammatory bowel diseases (VEOIBD), including infant disorders, are a diverse group of diseases found in children younger than 6 years of age. They have been associated with several gene variants. Our aim was to identify the genes that cause VEOIBD. METHODS: We performed whole exome sequencing of DNA from 1 infant with severe enterocolitis and her parents. Candidate gene mutations were validated in 40 pediatric patients and functional studies were carri...

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Publication status:
Published

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Journal:
Gastroenterology
Volume:
146
Issue:
4
Pages:
1028-1039
Publication date:
2014-04-01
DOI:
EISSN:
1528-0012
ISSN:
0016-5085
Source identifiers:
446790

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