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Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease
Authors:Xiao-Dan Hao  Ying Liu  Bao-Wei Li  Wei Wu  Xiao-Wen Zhao
Affiliation:Institute for Translational Medicine, College of Medicine, Qingdao University, Qingdao 266021, Shandong Province, China,Institute for Translational Medicine, College of Medicine, Qingdao University, Qingdao 266021, Shandong Province, China,Institute for Translational Medicine, College of Medicine, Qingdao University, Qingdao 266021, Shandong Province, China,Institute for Translational Medicine, College of Medicine, Qingdao University, Qingdao 266021, Shandong Province, China and State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Shandong Eye Institute, Shandong First Medical University & Shandong Academy of Medical Sciences, Qingdao 266071, Shandong Province, China
Abstract:
Keywords:Stargardt disease   whole-exome sequencing   ABCA4   novel mutation   retina
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