ABCB6 mutations cause ocular coloboma.


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… (More)
DOI: 10.1016/j.ajhg.2011.11.026


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@article{Wang2012ABCB6MC, title={ABCB6 mutations cause ocular coloboma.}, author={Lejin Wang and Fei He and Juan Bu and Yuanli Zhen and Xiaoqui Liu and Wei Du and Jiamei Dong and Jeffrey D. Cooney and Sushil Kumar Dubey and Yi Shi and Bo Gong and Jing Li and Paul F McBride and Yanlei Jia and Fang Lu and Kathleen A Soltis and Ying Lin and Prasanthi Namburi and Chen Liang and Periasamy Sundaresan and Barry H Paw and Wei Li and Dean Y. Li and John D. Phillips and Zhenglin Yang}, journal={American journal of human genetics}, year={2012}, volume={90 1}, pages={40-8} }