Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease
影响酪氨酰tRNA合成酶（YARS）催化结构域的突变纯合子会导致多系统疾病
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddy344
Williams, Katie B; Brigatti, Karlla W; Puffenberger, Erik G; Gonzaga-Jauregui, Claudia; Griffin, Laurie B; Martinez, Erick D; Wenger, Olivia K; Yoder, Mark A; Kandula, Vinay V R; Fox, Michael D; Demczko, Matthew M; Poskitt, Laura; Furuya, Katryn N; Reid, Jeffrey G; Overton, John D; Baras, Aris; Miles, Lili; Radhakrishnan, Kadakkal; Carson, Vincent J; Antonellis, Anthony; Jinks, Robert N; Strauss, Kevin A
