Article
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.
Nature genetics - 1 Jun 1994
Durham-Pierre D, Gardner J M, Nakatsu Y, King R A, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant M H
Abstract excerpt
Oculocutaneous albinism (OCA) is a genetically heterogeneous hypopigmentation disorder. One of the two major autosomal recessive forms involves the tyrosinase gene (OCA1), while the other form (OCA2) has recently been associated with alterations of the P gene on chromosome 15. OCA2 is about twice as common as OCA1 in African and African-American populations. We now describe an interstitial deletion that removes a...
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