CARD15 mutations in Blau syndrome.
Nat Genet
; 29(1): 19-20, 2001 Sep.
Article
de 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.
Recherche sur Google
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Arthrite
/
Uvéite
/
Protéines de transport
/
Protéines et peptides de signalisation intracellulaire
/
Exanthème
/
Maladies articulaires
/
Mutation
Type d'étude:
Prognostic_studies
Limites:
Female
/
Humans
/
Male
Langue:
En
Journal:
Nat Genet
Sujet du journal:
GENETICA MEDICA
Année:
2001
Type de document:
Article
Pays d'affiliation:
France