NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
NGLY1基因突变会导致神经运动障碍、智力障碍和神经病变。
期刊:European Journal of Medical Genetics
影响因子:1.7
doi:10.1016/j.ejmg.2014.08.008
Caglayan, Ahmet Okay; Comu, Sinan; Baranoski, Jacob F; Parman, Yesim; Kaymakçalan, Hande; Akgumus, Gozde Tugce; Caglar, Caner; Dolen, Duygu; Erson-Omay, Emine Zeynep; Harmanci, Akdes Serin; Mishra-Gorur, Ketu; Freeze, Hudson H; Yasuno, Katsuhito; Bilguvar, Kaya; Gunel, Murat