Article
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
American journal of human genetics - 1 Dec 1993
Tripathi R K, Bundey S, Musarella M A, Droetto S, Strunk K M, Holmes S A, Spritz R A
Abstract excerpt
Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melanin biosynthesis. Mutations of the TYR gene have been identified in a large number of patients, most of Caucasian ethnic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.