Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
编码线粒体膜蛋白的ATAD3A基因的复发性从头突变和双等位基因变异会导致不同的神经系统综合征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.08.007
Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Gu, Shen; Coban-Akdemir, Zeynep; Eldomery, Mohammad K; Posey, Jennifer E; Jhangiani, Shalini N; Rosenfeld, Jill A; Cho, Megan T; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A; Smith, Joshua D; McLaughlin, Heather M; Eng, Christine M; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M; Lotze, Timothy E; Boerwinkle, Eric; Gibbs, Richard A; Hickey, Scott E; Graham, Brett H; Yang, Yaping; Buhas, Daniela; Martin, Donna M; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J; Lupski, James R
