CARD15 mutations in Blau syndrome.

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Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot JP

CARD15 mutations in Blau syndrome.

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

PubMed ID

11528384 [ View in PubMed

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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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Polypeptides

Name	UniProt ID
Nucleotide-binding oligomerization domain-containing protein 2	Q9HC29	Details