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of 2
pro vyhledávání: '"Marina B. Gorroño-Echebarría"'
Blau Syndrome-Related CARD15/NOD2 Mutations Are Not Linked to Idiopathic Uveitis in Spanish Patients
Autor:
Noelia Rodríguez-Pérez, Ana Aguinaga-Barrilero, Marina B. Gorroño-Echebarría, Mercedes Pérez-Blas, José M. Martín-Villa
Publikováno v:
Disease Markers, Vol 27, Iss 1, Pp 1-5 (2009)
Disease markers
Disease markers
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3f02e3c12c297c765bb4d0fd8480992
Autor:
Gorroño-Echebarría, Marina B.1 (AUTHOR), Alvarez-Mon, Melchor2 (AUTHOR), Clement-Corral, Ana1 (AUTHOR), Teus-Guezala, Miguel A.1 (AUTHOR)
Publikováno v:
Neuro-Ophthalmology. Jul/Aug2006, Vol. 30 Issue 4, p109-110. 2p.