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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
A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome 期刊论文
GENE, 2019, 卷号: 704
作者:  Liu, Yuanyuan;  Wang, Mingwei;  Chen, Qiongrong;  Zheng, Qiaosong;  Li, Guangyu
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/05
A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State 期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: 10
作者:  Yang, Cheng;  Song, Yuan;  Chen, Zhaowei;  Yuan, Xiaohan;  Chen, Xinhua
收藏  |  浏览/下载：24/0  |  提交时间：2019/12/05
The pathogenic gene screening in a Chinese familial dilated cardiomyopathy pedigree from Hubei 期刊论文
GENE, 2018, 卷号: 642
作者:  Lyu, Yongnan;  Chen, Jingjing;  Xu, Hongxin
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
Thrombophilia Caused by Beta2-Glycoprotein I Deficiency: In Vitro Study of a Rare Mutation in APOH Gene 期刊论文
CURRENT MEDICAL SCIENCE, 2018, 卷号: 38, 期号: 2
作者:  Zhang, Xiao-ping;  Zeng, Wei;  Liu, Hui;  Tang, Liang;  Wang, Qing-yun
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
A novel gene mutation of Runx2 in cleidocranial dysplasia 期刊论文
JOURNAL OF HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY-MEDICAL SCIENCES, 2017, 卷号: 37, 期号: 5
作者:  Peng, You-jian;  Chen, Qiao-yun;  Fu, Dong-jie;  Liu, Zhi-ming;  Mao, Tian-tian
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05
A sensitive and convenient method for clinical detection of non-syndromic hearing loss-associated common mutations 期刊论文
GENE, 2017, 卷号: 628
作者:  Yuan, Er-Feng;  Xia, Wei;  Huang, Jing-Tao;  Hu, Ling;  Liao, Xing
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/05
Mutation detection and prenatal diagnosis of XLHED pedigree 期刊论文
PEERJ, 2017, 卷号: 5
作者:  Lin, Yao;  Yin, Wei;  Bian, Zhuan
收藏  |  浏览/下载：18/0  |  提交时间：2019/12/05
Next generation sequencing identified novel heterozygous nonsense mutation in CNGB1 gene associated with retinitis pigmentosa in a Chinese patient 期刊论文
ONCOTARGET, 2017, 卷号: 8, 期号: 51
作者:  Banerjee, Santasree;  Yao, Junping;  Zhang, Xinxin;  Niu, Jianjun;  Chen, Zhongshan
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/05
Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma 期刊论文
TUMOR BIOLOGY, 2015, 卷号: 36, 期号: 4
作者:  Zhang, Leilei;  Jia, Renbing;  Zhao, Junyang;  Fan, Jiayan;  Zhou, YiXiong
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/05

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