Article
Functional and structural implications of the complement factor H Y402H polymorphism associated with age-related macular degeneration.
Investigative ophthalmology & visual science - 1 May 2008
Ormsby Rebecca J, Ranganathan Shoba, Tong Joo Chuan, Griggs Kim M, Dimasi David P, Hewitt Alex W, Burdon Kathryn P, Craig Jamie E, Hoh Josephine, Gordon David L
Abstract excerpt
PURPOSE: A Tyr-to-His (Y402H) sequence variant in the factor H (FH) and factor H-like protein (FHL-1) gene is strongly associated with an increased susceptibility for age-related macular degeneration (AMD). The purpose of this study was to understand how the Y402H variant in FH/FHL-1 contributes to the pathogenesis of AMD and, in particular, whether interactions mediated by FH/FHL-1, including binding to...
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