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, vol. 9, issue 20, p 3011, ISSN 09646906. ISBN 09646906.

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