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Lejin Wang
Peking University
1Publications
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55Citations
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#1Lejin Wang (PKU: Peking University)H-Index: 1
#2Fei He (Academy of Medical Sciences, United Kingdom)H-Index: 5
Last.Zhenglin Yang (Academy of Medical Sciences, United Kingdom)H-Index: 34
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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...
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