Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect
丙氨酰tRNA合成酶功能丧失突变会导致常染色体隐性遗传的早发性癫痫性脑病,并伴有持续性髓鞘形成缺陷。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.02.012
Simons, Cas; Griffin, Laurie B; Helman, Guy; Golas, Gretchen; Pizzino, Amy; Bloom, Miriam; Murphy, Jennifer L P; Crawford, Joanna; Evans, Sarah H; Topper, Scott; Whitehead, Matthew T; Schreiber, John M; Chapman, Kimberly A; Tifft, Cyndi; Lu, Katrina B; Gamper, Howard; Shigematsu, Megumi; Taft, Ryan J; Antonellis, Anthony; Hou, Ya-Ming; Vanderver, Adeline