Article
A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.
Chinese medical journal - 1 Oct 2011
Lin Yu-Ying, Wei Ai-Hua, Zhou Zhi-Yong, Zhu Wei, He Xin, Lian Shi
Abstract excerpt
BACKGROUND: The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1 in a Chinese family. METHODS: Genomic DNA was isolated from the blood leukocytes of a proband and his family....
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