A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Golgi Qb-SNARE 基因 GOSR2 突变导致进行性肌阵挛性癫痫和早期共济失调
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.04.011
Mark A Corbett, Michael Schwake, Melanie Bahlo, Leanne M Dibbens, Meng Lin, Luke C Gandolfo, Danya F Vears, John D O'Sullivan, Thomas Robertson, Marta A Bayly, Alison E Gardner, Annemarie M Vlaar, G Christoph Korenke, Bastiaan R Bloem, Irenaeus F de Coo, Judith M A Verhagen, Anna-Elina Lehesjoki, Jo
