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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,...
Autores principales: | Rodríguez-Pérez, Noelia, Aguinaga-Barrilero, Ana, Gorroño-Echebarría, Marina B., Pérez-Blas, Mercedes, Martín-Villa, José M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
IOS Press
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835056/ https://www.ncbi.nlm.nih.gov/pubmed/19822951 http://dx.doi.org/10.3233/DMA-2009-0639 |
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