Blau Syndrome-Related CARD15/NOD2 Mutations Are Not Linked to Idiopathic Uveitis in Spanish Patients

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,...

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Главные авторы: Rodríguez-Pérez, Noelia, Aguinaga-Barrilero, Ana, Gorroño-Echebarría, Marina B., Pérez-Blas, Mercedes, Martín-Villa, José M.
Формат: Artigo
Язык:Inglês
Опубликовано: IOS Press 2009
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3835056/
https://ncbi.nlm.nih.gov/pubmed/19822951
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/DMA-2009-0639
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