Lejin Wang
Peking University
Publications 1
Published on Jan 1, 2012in American Journal of Human Genetics9.92
Lejin Wang1
Estimated H-index: 1
(PKU: Peking University),
Fei He5
Estimated H-index: 5
(Academy of Medical Sciences, United Kingdom)
+ 22 AuthorsYi Shi14
Estimated H-index: 14
(Academy of Medical Sciences, United Kingdom)
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 members of the family and was absent in six unaffected members from three generations. A L...