Article
Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1.
Clinical & experimental ophthalmology - 1 Jan 2010
Liu Jing, Choy Kwong-Wai, Chan Leo W L, Leung Tak-Yeung, Tam Pancy O S, Chiang Sylvia W Y, Lam Dennis S C, Pang Chi-Pui, Lai Timothy Y Y
Abstract excerpt
BACKGROUND: To identify the sequence variants of the tyrosinase (TYR) gene in Chinese families with oculocutaneous albinism. METHODS: Three families with oculocutaneous albinism type 1 and 95 unrelated healthy Chinese individuals with normal pigmentation were screened for mutations in the TYR gene by direct sequencing. Computational algorithms were used to characterize the biological significance of the mutants....
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