Article
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
Human mutation - 1 Jan 2000
Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M
Abstract excerpt
Oculocutaneous albinism (OCA) is an inherited disorder resulting in hypopigmentation of the skin, hair, and eyes. OCA type 2 (tyrosinase-positive) is the most common recessively inherited disorder among southern African Blacks. OCA2 is also seen in southern African Caucasoids, but is less frequent. The gene responsible for this type of albinism, P, is the human homolog of the mouse pink-eyed dilution gene....
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