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A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II 期刊论文
MOLECULAR MEDICINE REPORTS, 2019, 卷号: 19, 期号: 3
作者:  Ma, Jing;  Zhang, Zhen;  Jiang, Hong-Chao;  Sun, Hao;  Ming, Cheng
收藏  |  浏览/下载：15/0  |  提交时间：2019/12/04
A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II 期刊论文
2019, 卷号: 19, 期号: 3, 页码: 1775-1780
作者:  Ma, Jing;  Zhang, Zhen;  Jiang, Hong-Chao;  Sun, Hao;  Ming, Cheng
收藏  |  浏览/下载：24/0  |  提交时间：2020/01/03
Creation of Miniature Pig Model of Human Waardenburg Syndrome Type 2A by ENU Mutagenesis 期刊论文
Human Genetics, 2017, 卷号: 136, 期号: 11-12, 页码: 1463-1475
作者:  Hai T(海棠);  Wei-Wei Guo;  Yao J(姚婧);  Cao CW(曹春伟);  Luo AL(罗霭玲)
收藏  |  浏览/下载：19/0  |  提交时间：2018/07/09
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene 期刊论文
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2016, 卷号: 85
作者:  Ma, Jing;  Zhang, Tie-Song;  Lin, Ken;  Sun, Hao;  Jiang, Hong-Chao
收藏  |  浏览/下载：13/0  |  提交时间：2019/12/04
A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47, XYY) with syndactyly, type III waardenburg syndrome, and congenital heart disease 期刊论文
Genetics and Molecular Research, 2016, 卷号: 15, 期号: 4
作者:  Wang, D;  Ren, G F;  Zhang, H Z;  Yi, C Y;  Peng, Z J
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/16
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2 期刊论文
FEBS Letters, 2012, 卷号: 586, 期号: 23, 页码: 4126-4131
作者:  Zhang, Hua;  Luo, Hunjin;  Chen, Hongsheng;  Mei, Lingyun;  He, Chufeng
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/03
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II 期刊论文
Human Genetics, 2012, 卷号: 131, 期号: 3, 页码: 491-503
作者:  Zhang, Hua;  Chen, Hongsheng;  Luo, Hunjin;  An, Jing;  Sun, Lin
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/03
A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II 期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2011, 卷号: 38, 期号: 12
作者:  Yan, Xukun;  Zhang, Tianyu;  Wang, Zhengmin;  Jiang, Yi;  Chen, Yan
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19
Identification of a novel nonsense mutation on the pax3 gene in enu-derived white belly spotting mice and its genetic interaction with c-kit 期刊论文
Pigment cell & melanoma research, 2010, 卷号: 23, 期号: 2, 页码: 252-262
作者:  Guo, Xiao-Li;  Ruan, Hai-Bin;  Li, Yan;  Gao, Xiang;  Li, Wei
收藏  |  浏览/下载：24/0  |  提交时间：2019/05/10
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome 期刊论文
Biochemical and Biophysical Research Communications, 2010, 卷号: 397, 期号: 1, 页码: 70-74
作者:  Chen, Hongsheng;  Jiang, Lu;  Xie, Zhiguo;  Mei, Lingyun;  He, Chufeng
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/03

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