Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
谷氨酰-tRNAGln 酰胺转移酶亚基的致病变异可导致致命的线粒体心肌病
期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-018-06250-w
Marisa W Friederich, Sharita Timal, Christopher A Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G J Derks, David Bick, Katelijne Bouman, Kathryn C Chatfield, Nadine Damouny-Naoum, Megan K Dishop, Tzipora C Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Fe