CORC

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CORC

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A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract 期刊论文
BMC MEDICAL GENETICS, 2019, 卷号: 20
作者:  Li, Dan;  Cai, Lei;  Qiu, Xiaodi;  Zhao, Zhennan;  Wu, Jihong
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/05
A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract 期刊论文
2019, 卷号: 20
作者:  Fan, Qi;  Li, Dan;  Cai, Lei;  Qiu, Xiaodi;  Zhao, Zhennan
收藏  |  浏览/下载：10/0  |  提交时间：2020/01/03
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome 期刊论文
2019, 卷号: 20, 期号: 1, 页码: 14
作者:  Ling, Chao;  Sui, Ruifang;  Yao, Fengxia;  Wu, Zhihong;  Zhang, Xue
收藏  |  浏览/下载：10/0  |  提交时间：2020/01/03
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
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family 期刊论文
2018, 卷号: 19, 期号: 1, 页码: 190
作者:  Song, Zixun;  Si, Nuo;  Xiao, Wei
收藏  |  浏览/下载：13/0  |  提交时间：2020/01/03
New cataract markers: Mechanisms of disease 期刊论文
CLINICA CHIMICA ACTA, 2017, 卷号: 472
作者:  Zhu, Xiangjia;  Zhang, Shaohua;  Chang, Ruiqi;  Lu, Yi
收藏  |  浏览/下载：1/0  |  提交时间：2019/12/05
A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus 期刊论文
MOLECULAR VISION, 2017, 卷号: 23
作者:  Rao, Yan;  Dong, Sufang;  Li, Zuhua;  Yang, Guohua;  Peng, Chunyan
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/05
A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family 期刊论文
INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2017, 卷号: 10, 期号: 5, 页码: 684-690
作者:  Cui, Xiu-Kun[1];  Zhu, Ke-Ke[2];  Zhou, Zheng[3];  Wan, Si-Min[4];  Dong, Yi[5]
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/23
A novel splice donor site mutation in epha2 caused congenital cataract in a chinese family 期刊论文
Indian journal of ophthalmology, 2016, 卷号: 64, 期号: 5, 页码: 364-368
作者:  Bu, Juan;  He, Sijie;  Wang, Lejin;  Li, Jiankang;  Liu, Jing
收藏  |  浏览/下载：46/0  |  提交时间：2019/05/09

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