Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy
由 COX6B1 突变引起的线粒体复合物 IV 缺乏症与脑肌病、脑积水和心肌病有关
期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/ejhg.2014.85
Ulla Najwa Abdulhag, Devorah Soiferman, Ora Schueler-Furman, Chaya Miller, Avraham Shaag, Orly Elpeleg, Simon Edvardson, Ann Saada
