Article
ABCB6 mutations cause ocular coloboma.
American journal of human genetics - 13 Jan 2012
Wang Lejin, Wang Lejing, He Fei, Bu Juan, Zhen Yuanli, Liu Xiaoqui, Liu Xiaqi, Du Wei, Dong Jiamei, Cooney Jeffrey D, Dubey Sushil Kumar, Shi Yi, Gong Bo, Li Jing, McBride Paul F, Jia Yanlei, Lu Fang, Soltis Kathleen A, Lin Ying, Namburi Prasanthi, Liang Chen, Sundaresan Periasamy, Paw Barry H, Li Wei, Li Dean Y, Phillips John D, Yang Zhenglin
Abstract excerpt
Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. This disorder displays genetic and clinical heterogeneity. Using a positional cloning approach, we identified a mutation in the ATP-binding cassette (ABC) transporter ABCB6 in a Chinese family affected by autosomal-dominant coloboma. The Leu811Val mutation was identified in seven affected...
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