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Visual acuity development in tyrosinase negative oculocutaneous albinism

โœ Scribed by S. G. Jacobson; I. Mohindra; R. Held; T. P. Dryja; D. M. Albert


Book ID
104646662
Publisher
Springer-Verlag
Year
1984
Tongue
English
Weight
419 KB
Volume
56
Category
Article
ISSN
0012-4486

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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