CARD15 mutations in Blau syndrome

被引：730

作者：

Miceli-Richard, C

Lesage, S

Rybojad, M

Prieur, AM

Manouvrier-Hanu, S

Häfner, R

Chamaillard, M

Zouali, H

Thomas, G

Hugot, JP ^{[1
]}

机构：

[1] CEPH, Fdn Jean Dausset, Paris, France

[2] Hop Robert Debre, F-75019 Paris, France

[3] Hop Necker Enfants Malad, Dept Pediat Immunol, Paris, France

[4] Hop Jeanne de Flandre, Dept Genet, Lille, France

[5] Childrens Hosp, Dept Pediat Rheumatol, Garmish Partenkirchen, Germany

[6] INSERM, U434, Paris, France

来源：

NATURE GENETICS | 2001年 / 29卷 / 01期

关键词：

D O I：

10.1038/ng720

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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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收藏

页码：19 / 20

页数：2

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