Ontology highlight
ABSTRACT:
SUBMITTER: Rodriguez-Perez N
PROVIDER: S-EPMC3835056 | biostudies-other | 2009
REPOSITORIES: biostudies-other
Rodríguez-Pérez Noelia N Aguinaga-Barrilero Ana A Gorroño-Echebarría Marina B MB Pérez-Blas Mercedes M Martín-Villa José M JM
Disease markers 20090101 1
Uveitis is a clinical feature of the Blau syndrome, a disease linked to CARD15 (also referred to as NOD2) mutations. Three main mutations in this gene (R334W, R334Q and L469F) have been reported as Blau syndrome risk factors, a disease that manifests uveitis as one of its clinical features. However, little is known on the involvement of this gene in idiopathic uveitis. We thus sought to determine the frequency of these Blau-related CARD15 mutations in a cohort of Spanish patients with idiopathic ...[more]