๐”– Bobbio Scriptorium
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Minimal pigment: a new type of oculocutaneous albinism

โœ Scribed by Richard A. King; Jonathan D. Wirtschafter; David P. Olds; John Brumbaugh


Book ID
115089444
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
707 KB
Volume
29
Category
Article
ISSN
0009-9163

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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