Article
Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
Human mutation - 1 Apr 2001
Camand O, Marchant D, Boutboul S, Péquignot M, Odent S, Dollfus H, Sutherland J, Levin A, Menasche M, Marsac C, Dufier J L, Heon E, Abitbol M
Abstract excerpt
Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by the reduction or the absence of tyrosinase (TYR) activity in melanocytes of the skin, hair and eyes. Here we report an analysis of 45 patients with OCA. We found five novel mutations in the tyrosinase gene involved in the pathogenesis of oculocutaneous albinism type IA or type IB (OCA-1A/B) in five unrelated patients. Three...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.