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- Title
CARD15 mutations in Blau syndrome.
- Authors
Miceli-Richard, Corinne; Lesage, Suzanne; Rybojad, Michel; Prieur, Anne-Marie; Manouvrier-Hanu, Sylvie; Häfner, Renate; Chamaillard, Mathias; Zouali, Habib; Thomas, Gilles; Hugot, Jean-Pierre
- 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.
- Subjects
GENETIC mutation; HUMAN chromosome abnormalities
- Publication
Nature Genetics, 2001, Vol 29, Issue 1, p19
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng720