Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2
外显子组测序在一个患有晚发性 CMT2 的家族中发现了甲硫氨酰 tRNA 合成酶 (MARS) 的一个显著变异。
期刊:Journal of Neurology Neurosurgery and Psychiatry
影响因子:7.5
doi:10.1136/jnnp-2013-305049
Gonzalez, Michael; McLaughlin, Heather; Houlden, Henry; Guo, Min; Yo-Tsen, Liu; Hadjivassilious, Marios; Speziani, Fiorella; Yang, Xiang-Lei; Antonellis, Anthony; Reilly, Mary M; Züchner, Stephan
