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27 Tyrosinase-negative oculocutaneous albinism in Japan

โœ Scribed by Matsunaga, J; Dakeishi, M; Miyaaura, Y; Tomita, Y


Book ID
119174278
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
121 KB
Volume
12
Category
Article
ISSN
0923-1811

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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