Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis
对与早发性复杂性遗传性痉挛性截瘫伴神经节苷脂合成障碍相关的B4GALNT1新变异进行功能验证
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.62880
Alecu, Julian Emanuel; Ohmi, Yuhsuke; Bhuiyan, Robiul H; Inamori, Kei-Ichiro; Nitta, Takahiro; Saffari, Afshin; Jumo, Hellen; Ziegler, Marvin; de Gusmao, Claudio Melo; Sharma, Nutan; Ohno, Shiho; Manabe, Noriyoshi; Yamaguchi, Yoshiki; Kambe, Mariko; Furukawa, Keiko; Sahin, Mustafa; Inokuchi, Jin-Ichi; Furakawa, Koichi; Ebrahimi-Fakhari, Darius