The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
生殖系YARS2变异的表型谱：从孤立性铁粒幼细胞性贫血到线粒体肌病、乳酸性酸中毒和铁粒幼细胞性贫血2
期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2017.182659
Riley, Lisa G; Heeney, Matthew M; Rudinger-Thirion, Joëlle; Frugier, Magali; Campagna, Dean R; Zhou, Ronghao; Hale, Gregory A; Hilliard, Lee M; Kaplan, Joel A; Kwiatkowski, Janet L; Sieff, Colin A; Steensma, David P; Rennings, Alexander J; Simons, Annet; Schaap, Nicolaas; Roodenburg, Richard J; Kleefstra, Tjitske; Arenillas, Leonor; Fita-Torró, Josep; Ahmed, Rasha; Abboud, Miguel; Bechara, Elie; Farah, Roula; Tamminga, Rienk Y J; Bottomley, Sylvia S; Sanchez, Mayka; Huls, Gerwin; Swinkels, Dorine W; Christodoulou, John; Fleming, Mark D
