Article
Biochemical analysis of a common human polymorphism associated with age-related macular degeneration.
Biochemistry - 17 Jul 2007
Yu Jiamei, Wiita Patrick, Kawaguchi Riki, Honda Jane, Jorgensen Adam, Zhang Kang, Fischetti Vincent A, Sun Hui
Abstract excerpt
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in developed countries. A large number of human genetic studies have associated a common variant (Y402H) of complement factor H (CFH) with a highly significant increase in AMD risk. CFH is a modular protein with 20 homologous short consensus repeats (SCRs). The Y402H variant is located in SCR7 of both CFH and factor H-like...
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