Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2)

导出原文传递

翻译打印收藏纠错

作者： Vanlander, Arnaud V. ^[1] ; Menten, Bjoern ^[2] ; Smet, Joel ^[3] ; De Meirleir, Linda ^[4] ; Sante, Tom ^[5] ; De Paepe, Boel ^[6] ; Seneca, Sara ; Pearce, Sarah F. ; Powell, Christopher A. ; Vergult, Sarah ; Michotte, Alex ; De Latter, Elien ; Vantomme, Lies ; Minczuk, Michal ; Van Coster, Rudy

作者单位： Brussels Univ Hosp, Dept Pediat Neurol & Metab, Brussels, Belgium ^[1] Free Univ Brussels, Ctr Med Genet, Brussels, Belgium ^[2] Ghent Univ Hosp, Dept Pediat Neurol & Metab, Ghent, Belgium ^[3] MRC Mitochondrial Biol Unit, Cambridge, England ^[4] Univ Ghent, Ctr Med Genet Ghent, B-9000 Ghent, Belgium ^[5] Brussels Univ Hosp, Dept Neurol, Brussels, Belgium ^[6]

关键词 NARS2 mitochondria mitochondrial aminoacyl-tRNA synthetase combined oxidative phosphorylation deficiency

发布时间 2018-09-20

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交