Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy
铜转运蛋白基因ATP7A的错义突变会导致X连锁远端遗传性运动神经病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2010.01.027
Kennerson, Marina L; Nicholson, Garth A; Kaler, Stephen G; Kowalski, Bartosz; Mercer, Julian F B; Tang, Jingrong; Llanos, Roxana M; Chu, Shannon; Takata, Reinaldo I; Speck-Martins, Carlos E; Baets, Jonathan; Almeida-Souza, Leonardo; Fischer, Dirk; Timmerman, Vincent; Taylor, Philip E; Scherer, Steven S; Ferguson, Toby A; Bird, Thomas D; De Jonghe, Peter; Feely, Shawna M E; Shy, Michael E; Garbern, James Y