Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
进行性肌阵挛性癫痫-残留未解决病例具有明显的遗传异质性,包括多萜醇依赖性蛋白糖基化途径基因
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.03.013
Carolina Courage, Karen L Oliver, Eon Joo Park, Jillian M Cameron, Kariona A Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betul Baykan, Christian Brandt, Carlo di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M Dibbens, Barbara Castellotti, Patrizia R