Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations
与TIMM50突变相关的线粒体癫痫性脑病、3-甲基戊二酸尿症和可变复合物V缺陷
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.12855
Shahrour, M A; Staretz-Chacham, O; Dayan, D; Stephen, J; Weech, A; Damseh, N; Pri Chen, H; Edvardson, S; Mazaheri, S; Saada, A; Hershkovitz, E; Shaag, A; Huizing, M; Abu-Libdeh, B; Gahl, W A; Azem, A; Anikster, Y; Vilboux, T; Elpeleg, O; Malicdan, M C