Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
机械敏感离子通道TMEM63A的杂合变异导致婴儿期短暂性髓鞘形成不足
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.09.011
Yan, Huifang; Helman, Guy; Murthy, Swetha E; Ji, Haoran; Crawford, Joanna; Kubisiak, Thomas; Bent, Stephen J; Xiao, Jiangxi; Taft, Ryan J; Coombs, Adam; Wu, Ye; Pop, Ana; Li, Dongxiao; de Vries, Linda S; Jiang, Yuwu; Salomons, Gajja S; van der Knaap, Marjo S; Patapoutian, Ardem; Simons, Cas; Burmeister, Margit; Wang, Jingmin; Wolf, Nicole I