Article
Complement factor I and age-related macular degeneration.
Molecular vision - 1 Jan 2014
Alexander Philip, Gibson Jane, Cree Angela J, Ennis Sarah, Lotery Andrew J
Abstract excerpt
PURPOSE: The complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD). Complement factor I (CFI) is a serum protease that inhibits all complement pathways. A previous multicenter study identified a single missense CFI mutation (p.Gly119Arg) in 20/3,567 (0.56%) of AMD cases versus 1/3,937 (0.025%) of controls, thus suggesting that this mutation confers a high risk of AMD....
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