Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. - d'Addio M; Pizzigoni A; Bassi MT; Baschirotto C; Valetti C; Incerti B; Clementi M; De Luca M; Ballabio A; Schiaffino MV (Human molecular genetics, 2000)