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Molecular analysis of Korean patients with oculocutaneous albinism

โœ Scribed by Shin Hae Park; Hyojin Chae; Yonggoo Kim; Myungshin Kim

Book ID
106327927
Publisher
Springer
Year
2011
Tongue
English
Weight
435 KB
Volume
56
Category
Article
ISSN
0021-5155

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โœ William S. Oetting; Richard A. King ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› Springer ๐ŸŒ English โš– 594 KB

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