Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia
YARS2线粒体肌病、乳酸性酸中毒和铁粒幼细胞性贫血的表型变异及新型YARS2突变的鉴定
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/1750-1172-8-193
Riley, Lisa G; Menezes, Minal J; Rudinger-Thirion, Joëlle; Duff, Rachael; de Lonlay, Pascale; Rotig, Agnes; Tchan, Michel C; Davis, Mark; Cooper, Sandra T; Christodoulou, John