Article
Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.
Molecular vision - 1 Jan 2015
Duvvari Maheswara R, Saksens Nicole T M, van de Ven Johannes P H, de Jong-Hesse Yvonne, Schick Tina, Nillesen Willy M, Fauser Sascha, Hoefsloot Lies H, Hoyng Carel B, de Jong Eiko K, den Hollander Anneke I
Abstract excerpt
PURPOSE: Age-related macular degeneration (AMD) and cuticular drusen (CD), a clinical subtype of AMD, have been linked to genetic variants in the complement factor H (CFH) gene. In this study, we aimed to investigate the frequency of rare variants in the CFH gene in 180 cases with CD. In addition, we aimed to determine the frequency of a previously reported rare, highly penetrant CFH variant (p.Arg1210Cys) in a...
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