A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
Raychaudhuri S, Iartchouk O, Chin K, Tan PL, Tai AK, Ripke S, Gowrisankar S, Vemuri S, Montgomery K, Yu Y, Reynolds R, Zack DJ, Campochiaro B, Campochiaro P, Katsanis N, Daly MJ, Seddon JM.
Raychaudhuri S, et al. Among authors: seddon jm.
Nat Genet. 2011 Oct 23;43(12):1232-6. doi: 10.1038/ng.976.
Nat Genet. 2011.
PMID: 22019782
Free PMC article.