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CORC

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A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes 期刊论文
2019, 卷号: 692, 页码: 113-118
作者:  Si, Nuo;  Song, Zixun;  Meng, Xiaolu;  Li, Xinru;  Xiao, Wei
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03
Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract 期刊论文
CURRENT EYE RESEARCH, 2018, 卷号: 43, 期号: 3
作者:  Wang, Kai Jie;  Zha, Xu;  Chen, Dou Dou;  Zhu, Si Quan
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/04
Identification of a novel GJA3 mutation in congenital nuclear cataract 期刊论文
Optometry and Vision Science, 2015, 卷号: 92, 期号: 3, 页码: 337-342
作者:  Yuan, Lamei;  Guo, Yi;  Yi, Junhui;  Xiao, Jingjing;  Yuan, Jinzhong
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/03
A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family 期刊论文
2015, 卷号: 10, 期号: 7, 页码: e0131471
作者:  Zhuang, Xiaotong;  Wang, Lianqing;  Song, Zixun;  Xiao, Wei
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13
Cataract-linked mutation RI 88H promotes beta B2-crystallin aggregation and fibrillization during acid denaturation 期刊论文
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2014, 卷号: 447, 期号: 2, 页码: 244-249
作者:  Xi, YB;  Zhang, K;  Dai, AB;  Ji, SR;  Yao, K
收藏  |  浏览/下载：5/0  |  提交时间：2015/12/14
Molecular genetics of congenital nuclear cataract 期刊论文
European Journal of Medical Genetics, 2014, 卷号: 57, 期号: 2-3, 页码: 113-122
作者:  Deng, Hao*;  Yuan, Lamei
收藏  |  浏览/下载：1/0  |  提交时间：2019/12/03
HSF4 regulates DLAD expression and promotes lens de-nucleation 期刊论文
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2013, 卷号: 1832, 期号: 8, 页码: 1167-1172
作者:  Cui, Xiukun;  Wang, Lei;  Zhang, Jing;  Du, Rong;  Liao, Shengjie
收藏  |  浏览/下载：20/0  |  提交时间：2014/01/06
Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing. 期刊论文
Indian Journal of Biochemistry and Biophysics, 2013, 卷号: 50, 期号: 4, 页码: 253-258
作者:  Guo, Yi;  Yuan, Lamei;  Yi, Junhui;  Xiao, Jingjing;  Xu, Hongbo
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/03
A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family 期刊论文
2011, 卷号: 17, 期号: 148, 页码: 1320-1323
作者:  Yang, Guoxing;  Zhang, Guisen
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/13
A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family 期刊论文
2011, 卷号: 17, 期号: 172-74, 页码: 1559-1563
作者:  Yang, Guoxing;  Zhai, Xinling;  Zhao, Jialiang
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/13

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