Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy
由于新的 ACO2 缺失导致的单倍体不足导致患有显性视神经萎缩的患者的成纤维细胞中线粒体功能障碍
期刊:Scientific Reports
影响因子:3.8
doi:10.1038/s41598-020-73557-4
Marie Anne-Catherine Neumann #, Dajana Grossmann #, Simone Schimpf-Linzenbold, Dana Dayan, Katarina Stingl, Reut Ben-Menachem, Ophry Pines, François Massart, Sylvie Delcambre, Jenny Ghelfi, Jill Bohler, Tim Strom, Amit Kessel, Abdussalam Azem, Ludger Schöls, Anne Grünewald, Bernd Wissinger, Rejko Kr