ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation - Chacón-Camacho, Oscar F.; Granillo-Alvarez, Mariella; Ayala-Ramírez, Raul; Zenteno, Juan C. (Experimental eye research, 2013)
Keywords: ABCA4 gene; Adolescent; Adult; ATP-Binding Cassette Transporters - genetics; Child; DNA Mutational Analysis; Female; Founder Effect; Genetic Predisposition to Disease - ethnology; Genetic Predisposition to Disease - genetics; Heterozygote; Homozygote; Humans; macular degeneration; Macular Degeneration - ethnology; Macular Degeneration - genetics; Male; Mexico - epidemiology; Point Mutation; Retinal Dystrophies - ethnology; Retinal Dystrophies - genetics; retinal dystrophy; Stargardt disease; Young Adult; retinal dystrophy; Stargardt disease; founder effect; ABCA4 gene; macular degeneration