A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
Raychaudhuri, Soumya, Oleg Iartchouk, Kimberly Chin, Perciliz Tan, Albert Tai, Stephan Ripke, Sivakumar Gowrisankar, et al. 2011. “A Rare Penetrant Mutation in CFH Confers High Risk of Age-Related Macular Degeneration”. Nat Genet 43 (12): 1232-6.