Article
CARD15 mutations in Blau syndrome.
Nature genetics - 1 Sept 2001
Miceli-Richard C, Lesage S, Rybojad M, Prieur A M, Manouvrier-Hanu S, Häfner R, Chamaillard M, Zouali H, Thomas G, Hugot J P
Abstract excerpt
We have identified three missense mutations in the nucleotide-binding domain (NBD) of CARD15/NOD2 in four French and German families with Blau syndrome. Our findings indicate that, in addition to Crohn disease, CARD15 is involved in the susceptibility to a second granulomatous disorder.
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