Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease
致病性线粒体tRNA点突变：九种新突变证实了它们作为线粒体疾病病因的重要性
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.22358
Blakely, Emma L; Yarham, John W; Alston, Charlotte L; Craig, Kate; Poulton, Joanna; Brierley, Charlotte; Park, Soo-Mi; Dean, Andrew; Xuereb, John H; Anderson, Kirstie N; Compston, Alistair; Allen, Chris; Sharif, Saba; Enevoldson, Peter; Wilson, Martin; Hammans, Simon R; Turnbull, Douglass M; McFarland, Robert; Taylor, Robert W
