CARD15 mutations in Blau syndrome
Top Cited Papers
- 27 August 2001
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 29 (1) , 19-20
- https://doi.org/10.1038/ng720
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.Keywords
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