A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree
在一个中国大型家系中,DHTKD1基因的无义突变导致了夏科-马里-图斯病2型。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.09.018
Xu, Wang-Yang; Gu, Ming-Min; Sun, Lian-Hua; Guo, Wen-Ting; Zhu, Hou-Bao; Ma, Jian-Fang; Yuan, Wen-Tao; Kuang, Ying; Ji, Bao-Jun; Wu, Xiao-Lin; Chen, Yan; Zhang, Hong-Xin; Sun, Fu-Ting; Huang, Wei; Huang, Lei; Chen, Sheng-di; Wang, Zhu-Gang