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Mutation analysis of the tyrosinase gene in oculocutaneous albinism

✍ Scribed by Olivier Camand; Dominique Marchant; Sandrine Boutboul; Marie Péquignot; Sylvie Odent; Hélène Dollfus; Joanne Sutherland; Alex Levin; Maurice Menasche; Cécile Marsac; Jean-Louis Dufier; Elise Heon; Marc Abitbol

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
33 KB
Volume
17
Category
Article
ISSN
1059-7794

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Type I oculocutaneous albinism (OCA) is caused by the reduction in or absence of activity of tyrosinase in melanocytes in skin, hair, and the eyes, the result of mutations of the tyrosinase gene. To date, a total of 22 unique mutations in the coding region of tyrosinase have been described in the li