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Nat Genet. 2001 Sep;29(1):19-20.

CARD15 mutations in Blau syndrome.

Author information

1
Fondation Jean Dausset/CEPH, Paris, France.

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.

PMID:
11528384
DOI:
10.1038/ng720
[Indexed for MEDLINE]

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