Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
FBXL4基因突变导致线粒体脑病和线粒体DNA维持障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.03.016
Dirami, Thassadite; Rode, Baptiste; Jollivet, Mathilde; Da Silva, Nathalie; Escalier, Denise; Gaitch, Natacha; Norez, Caroline; Tuffery, Pierre; Wolf, Jean-Philippe; Becq, Frédéric; Ray, Pierre F; Dulioust, Emmanuel; Gacon, Gérard; Bienvenu, Thierry; Touré, Aminata; Ratzel, Sarah; Cullinan, Sara B; Garber, Kathryn B; Bonnen, Penelope E; Yarham, John W; Besse, Arnaud; Wu, Ping; Faqeih, Eissa A; Al-Asmari, Ali Mohammad; Saleh, Mohammad AM; Eyaid, Wafaa; Hadeel, Alrukban; He, Langping; Smith, Frances; Yau, Shu; Simcox, Eve M; Miwa, Satomi; Donti, Taraka; Abu-Amero, Khaled K; Wong, Lee-Jun; Craigen, William J; Graham, Brett H; Scott, Kenneth L; McFarland, Robert; Taylor, Robert W