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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
An overlap of Alport syndrome and rheumatoid arthritis in a patient and literature review 期刊论文
2019, 卷号: 20, 期号: 1, 页码: 277
作者:  Tang, Xiaofei;  Ding, Qiuling;  Xu, Dong;  Yang, Songtao;  Xiao, Yuefei
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome 期刊论文
Science China Life Sciences, 2019
作者:  Li, Z.*;  Zhu, P.;  Huang, H.;  Pan, Y.;  Han, P.
收藏  |  浏览/下载：18/0  |  提交时间：2019/12/27
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome 期刊论文
HUMAN MUTATION, 2015
Xu, Xiaojing; Yang, Xiaoxu; Wu, Qixi; Liu, Aijie; Yang, Xiaoling; Ye, Adam Yongxin; Huang, August Yue; Li, Jiarui; Wang, Meng; Yu, Zhe; Wang, Sheng; Zhang, Zhichao; Wu, Xiru; Wei, Liping; Zhang, Yuehua
收藏  |  浏览/下载：5/0  |  提交时间：2017/12/03
Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing 期刊论文
Molecular Biology Reports, 2014, 卷号: 41, 期号: 6, 页码: 3631-3635
作者:  Guo, Yi;  Yuan, Jinzhong;  Liang, Hui;  Xiao, Jingjing;  Xu, Hongbo
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/03
Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome 期刊论文
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2004, 卷号: 19, 期号: 5
作者:  Pan, XX;  Yan, JY;  Ren, H;  Zhang, W;  Shi, H
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/27

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