Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family

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• 作者：Mei Ren ; Xin Guang Yang ; Xiao Jie Dang…
• 关键词：Congenital cataract ; Autosomal dominant ; GJA8 ; Exome ; sequencing
• 刊名：Graefe's Archive for Clinical and Experimental Ophthalmology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：255
• 期：1
• 页码：141-151
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Ophthalmology;
• 出版者：Springer Berlin Heidelberg
• ISSN：1435-702X
• 卷排序：255

文摘

BackgroundCongenital cataract is a clinical and genetic heterogeneous group of eye disorders that causes visual impairment and childhood blindness. In this study, a Chinese family with congenital cataract is studied.