C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
C2orf69 突变会破坏线粒体功能,并导致人类多系统疾病和反复出现的自身炎症
期刊:Journal of Clinical Investigation
影响因子:13.3
doi:10.1172/JCI143078
Eva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, Elsa Wiame, Anja Holz, Ramona Salvarinova, Clara D van Karnebeek, Patricia Klemm, Kim Ohl, Michael Mull, Till Braunschweig, Joachim Weis, Clemens J Sommer, Stephanie Demuth, Claudia Haase, Claudia Stollbrink-Peschgens, François-Guillaume Debray, C