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Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

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作者单位: Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533 [1] Department of Ophthalmology, King Faisal Specialist Hospital, Research Center, Jeddah 21499, Saudi [2] Department of Pediatrics, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia [3] UCL Institute of Ophthalmology, Department of Genetics, London EC1V 9EL, United Kingdom [4] Department of Ophthalmology, College of Medicine, King Saud University, Riyadh 11573, Saudi Arabia [5] Department of Genetics, King Faisal Specialist Hospital, Research Center, Riyadh 11211, Saudi [6] Department of Genetics, King Faisal Specialist Hospital, Research Center, Riyadh 11211, Saudi Arabia [7] Department of Medical Genetics, King Faisal Specialist Hospital, Research Center, Riyadh 11211 [8] Department of Retina, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia [9]
发布时间 2013-11-20
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