Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A
对DYT1肌张力障碍蛋白TorsinA/TOR1A的人类变体进行生化和细胞分析
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.22602
Hettich, Jasmin; Ryan, Scott D; de Souza, Osmar Norberto; Saraiva Macedo Timmers, Luís Fernando; Tsai, Shelun; Atai, Nadia A; da Hora, Cintia C; Zhang, Xuan; Kothary, Rashmi; Snapp, Erik; Ericsson, Maria; Grundmann, Kathrin; Breakefield, Xandra O; Nery, Flávia C