Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands
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- 作者：Yan Xu ; Xueshan Xiao ; Shiqiang Li ; Xiaoyun Jia ; Wei Xin ; Panfeng Wang ; Wenmin Sun ; Li Huang ; Xiangming Guo ; Qingjiong Zhang ; zhangqji@mail.sysu.edu.cn" class="auth_mail" title="E-mail the corresponding author ; qingjiongzhang@yahoo.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Frequency ; Leber congenital amaurosis ; Mutation ; Whole exome sequencing ; Sanger sequencing
- 刊名：Experimental Eye Research
- 出版年：2016
- 出版时间：August 2016
- 年：2016
- 卷：149
- 期：Complete
- 页码：93-99
- 全文大小：826 K
文摘
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Mutations in RetNet genes account for 57% of patients with LCA.
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Mutations in GUCY2D are most common (11%, 17/159).
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Mutations in 63% probands identified by whole exome sequencing.
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Provide a mutation spectrum and frequency in Chinese with LCA.