Article
Detection of the Arg702Trp, Gly908Arg and Leu1007fsinsC polymorphisms of the NOD2/CARD15 gene by real-time PCR with melting curve analysis.
Clinical chemistry and laboratory medicine - 1 May 2004
Rüegg Christian, Hersberger Martin, Wusk Barbara, Rentsch Katharina, Kullak-Ublick Gerd A, von Eckardstein Arnold, Maly Friedrich E
Abstract excerpt
Crohn's disease is a complex disorder, with multiple genetic traits. A frameshift mutation (Leu1007fsinsC) and two missense mutations (Gly908Arg and Arg702Trp) in the NOD2/CARD15 gene are strongly associated with susceptibility to Crohn's disease. The presence of one of these risk alleles confers a 2- to 4-fold increase in the risk of developing Crohn's disease, and the presence of two mutant alleles increases...
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