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. 2001 Sep;29(1):19-20.
doi: 10.1038/ng720.

CARD15 mutations in Blau syndrome

C Miceli-Richard  1 , S Lesage, M Rybojad, A M Prieur, S Manouvrier-Hanu, R Häfner, M Chamaillard, H Zouali, G Thomas, J P Hugot
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CARD15 mutations in Blau syndrome

C Miceli-Richard et al. Nat Genet. 2001 Sep.

Abstract

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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