Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
SLC35A2基因的脑体细胞突变会导致难治性癫痫,并伴有异常的N-糖基化。
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000294
Sim, Nam Suk; Seo, Youngsuk; Lim, Jae Seok; Kim, Woo Kyeong; Son, Hyeonju; Kim, Heung Dong; Kim, Sangwoo; An, Hyun Joo; Kang, Hoon-Chul; Kim, Se Hoon; Kim, Dong-Seok; Lee, Jeong Ho