CARD15 mutations in Blau syndrome.
Nat Genet
; 29(1): 19-20, 2001 Sep.
Article
em En
| MEDLINE
| ID: mdl-11528384
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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Base de dados:
MEDLINE
Assunto principal:
Artrite
/
Uveíte
/
Proteínas de Transporte
/
Peptídeos e Proteínas de Sinalização Intracelular
/
Exantema
/
Artropatias
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article