Journal article icon

Journal article

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

Abstract:

Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients ...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Files:
Publisher copy:
10.1038/ncomms12342

Authors


Expand authors...
Publisher:
Springer Nature Publisher's website
Journal:
Nature Communications Journal website
Volume:
7
Article number:
12342
Publication date:
2016-08-09
Acceptance date:
2016-06-24
DOI:
ISSN:
2041-1723
Pmid:
27503255
Source identifiers:
638227
Language:
English
Keywords:
Pubs id:
pubs:638227
UUID:
uuid:8af0bfd0-c489-4ab8-be77-1a788f83e81b
Local pid:
pubs:638227
Deposit date:
2017-08-17

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP