Article
Novel CARD15/NOD2 mutations in Finnish patients with Crohn's disease and their relation to phenotypic variation in vitro and in vivo.
Inflammatory bowel diseases - 1 Feb 2008
Lappalainen Maarit, Paavola-Sakki Paulina, Halme Leena, Turunen Ulla, Färkkilä Martti, Repo Heikki, Kontula Kimmo
Abstract excerpt
BACKGROUND: Three mutations (R702W, G908R, and 1007fs) of the CARD15/NOD2 gene associate with Crohn's disease (CD). Despite a strong linkage of CD to the inflammatory bowel disease (IBD) 1 region, only 16% of the Finnish CD patients carry 1 of these 3 mutations, pointing to the possibility of yet undetected founder mutations in the genetically isolated Finns. The aim of this study was to screen for CARD15...
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