Article
Molecular Basis of Factor H R1210C Association with Ocular and Renal Diseases.
Journal of the American Society of Nephrology : JASN - 1 May 2016
Recalde Sergio, Tortajada Agustin, Subias Marta, Anter Jaouad, Blasco Miquel, Maranta Ramona, Coco Rosa, Pinto Sheila, Noris Marina, García-Layana Alfredo, Rodríguez de Córdoba Santiago
Abstract excerpt
The complement factor H (FH) mutation R1210C, which was described in association with atypical hemolytic uremic syndrome (aHUS), also confers high risk of age-related macular degeneration (AMD) and associates with C3 glomerulopathy (C3G). To reveal the molecular basis of these associations and to provide insight into what determines the disease phenotype in FH-R1210C carriers, we identified FH-R1210C carriers in...
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