Article
C9-R95X polymorphism in patients with neovascular age-related macular degeneration.
Investigative ophthalmology & visual science - 31 Jan 2012
Nishiguchi Koji M, Yasuma Tetsuhiro R, Tomida Daisuke, Nakamura Makoto, Ishikawa Kohei, Kikuchi Masato, Ohmi Yuhsuke, Niwa Toshimitsu, Hamajima Nobuyuki, Furukawa Koichi, Terasaki Hiroko
Abstract excerpt
PURPOSE: A non-sense mutation at codon 95 in the gene encoding complement factor C9 (C9-R95X) is found most frequently among Japanese. The authors investigated the association between C9-R95X and Japanese patients with neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV). METHODS: The presence of the C9-R95X polymorphism was assessed by direct sequencing in Japanese...
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