CORC

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CORC

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CRB2 mutation causes autosomal recessive retinitis pigmentosa 期刊论文
EXPERIMENTAL EYE RESEARCH, 2019, 卷号: 180
作者:  Sun, Ruxu;  Chen, Xue;  Jiang, Chao;  Yang, Daidi;  Wang, Min
收藏  |  浏览/下载：22/0  |  提交时间：2019/12/05
A Novel CNGA1 Gene Mutation (c.G622A) of Autosomal Recessive Retinitis Pigmentosa Leads to the CNGA1 Protein Reduction on Membrane 期刊论文
BIOCHEMICAL GENETICS, 2019, 卷号: 57, 期号: 4
作者:  Gao, Qing;  Liu, Yifan;  Lei, Xinlan;  Deng, Qinqin;  Tong, Yongqing
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/05
Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 3, 页码: 165-169
作者:  Yang, Mu;  Li, Shujin;  Liu, Wenjing;  Yang, Yeming;  Zhang, Lin
收藏  |  浏览/下载：20/0  |  提交时间：2020/12/24
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 2, 页码: 109-114
作者:  Li, Shujin;  Yang, Mu;  Liu, Wenjing;  Liu, Yuqing;  Zhang, Lin
收藏  |  浏览/下载：22/0  |  提交时间：2020/12/24
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa 期刊论文
HUMAN MOLECULAR GENETICS, 2018, 卷号: 27, 期号: 23
作者:  Zhang, Lin;  Sun, Zixi;  Zhao, Peiquan;  Huang, Lulin;  Xu, Mingchu
收藏  |  浏览/下载：22/0  |  提交时间：2019/12/05
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa 期刊论文
2018, 卷号: 27, 期号: 23, 页码: 4157-4168
作者:  Zhang, Lin;  Sun, Zixi;  Zhao, Peiquan;  Huang, Lulin;  Xu, Mingchu
收藏  |  浏览/下载：7/0  |  提交时间：2020/01/03
Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population 期刊论文
SCIENTIFIC REPORTS, 2016, 卷号: 6, 页码: 19432（1-10）
作者:  Zhang, DD;  Zhu, XJ (reprint author), Hosp Univ Elect Sci & Technol China, Sichuan Prov Lab Human Dis Gene Study, Inst Lab Med, Chengdu, Peoples R China.;  Yang, ZL;  Zhu, XJ;  Lu, F
收藏  |  浏览/下载：21/0  |  提交时间：2017/11/09
Novel compound heterozygous mutations in CNGA1 in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing 期刊论文
BMC OPHTHALMOLOGY, 2016, 卷号: 16
作者:  Wang, Min;  Gan, Dekang;  Huang, Xin;  Xu, Gezhi
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/06
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population 期刊论文
JOURNAL OF HUMAN GENETICS, 2015, 卷号: 60, 期号: 10, 页码: 625-630
作者:  Zhou, Yu;  Saikia, Bibhuti B.;  Jiang, Zhilin;  Zhu, Xiong;  Liu, Yuqing
收藏  |  浏览/下载：34/0  |  提交时间：2016/12/22
A Homozygous Missense Mutation in NEUROD1 Is Associated With Nonsyndromic Autosomal Recessive Retinitis Pigmentosa 期刊论文
2015, 卷号: 56, 期号: 1, 页码: 150-155
作者:  Wang, Feng;  Li, Huajin;  Xu, Mingchu;  Li, Hui;  Zhao, Li
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/13

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