De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation
GBF1基因的新生变异和遗传变异与高尔基体碎裂引起的轴突神经病变有关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.08.018
Mendoza-Ferreira, Natalia; Karakaya, Mert; Cengiz, Nur; Beijer, Danique; Brigatti, Karlla W; Gonzaga-Jauregui, Claudia; Fuhrmann, Nico; Hölker, Irmgard; Thelen, Maximilian P; Zetzsche, Sebastian; Rombo, Roman; Puffenberger, Erik G; De Jonghe, Peter; Deconinck, Tine; Zuchner, Stephan; Strauss, Kevin A; Carson, Vincent; Schrank, Bertold; Wunderlich, Gilbert; Baets, Jonathan; Wirth, Brunhilde