Article
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.
Molecular medicine reports - 1 Mar 2017
Lu Qian, Yuan Lamei, Xu Hongbo, Huang Xiangjun, Yang Zhijian, Yi Junhui, Ni Bin, Chen Yong, Deng Hao
Abstract excerpt
Oculocutaneous albinism (OCA) is a group of heterogeneous and autosomal recessive disorders characterized by a reduction or complete loss of melanin biosynthesis in melanocytes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR). The present study aimed to identify the genetic cause of OCA1 in a four‑generation consanguineous Chinese Han family....
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