A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome
PET100 的创始突变导致患有 Leigh 综合征的黎巴嫩患者出现单独的复合物 IV 缺陷
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.12.015
Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker, Ayan Dasvarma, Luke C Gandolfo, Justine E Marum, Matthew McKenzie, Heidi L Peters, David Mowat, Peter G Procopis, Bridget Wilcken, John Christodoulou, Garry K Brown, Michael T Ryan, Melanie Bahlo, David R Thorburn