Article
Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.
European journal of human genetics : EJHG - 1 May 2008
Bagnall Richard D, Roberts Roland G, Mirza Muddassar M, Torigoe Toshihiko, Prescott Natalie J, Mathew Christopher G
Abstract excerpt
CARD8 (TUCAN) is implicated in the regulation of apoptosis and inflammation, and is a positional and functional candidate gene for inflammatory bowel disease (IBD). Recent investigations have reported conflicting results of association between a CARD8 nonsynonymous SNP, rs2043211, and IBD. SNP rs2043211 results in an A>T transversion in the CARD8 template strand, which introduces a stop codon polymorphism...
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