CARD15 mutations in Blau syndrome

Authors
Miceli-Richard, C Lesage, S Rybojad, M Prieur, AM Manouvrier-Hanu, S Hafner, R Chamaillard, M Zouali, H Thomas, G Hugot, JP
Citation
C. Miceli-richard et al., CARD15 mutations in Blau syndrome, NAT GENET, 29(1), 2001, pp. 19-20
Citations number
9
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
10614036 → ACNP
Volume
29
Issue
1
Year of publication
2001
Pages
19 - 20
Database
ISI
SICI code
1061-4036(200109)29:1<19:CMIBS>2.0.ZU;2-2
Abstract
We have identified three missense mutations in the nucleotide-binding domai n (NBD) of CARD15/NOD2 in four French and German families with Blau syndrom e. Our findings indicate that, in addition to Crohn disease, CARD15 is invo lved in the susceptibility to a second granulomatous disorder.