A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy
DNM1L 中的一种新型新生显性负突变会损害线粒体裂变并表现为儿童癫痫性脑病
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.37721
Jill A Fahrner, Raymond Liu, Michael Scott Perry, Jessica Klein, David C Chan