Riley, Lisa G.; Heeney, Matthew M.; Rudinger-Thirion, Joëlle; Frugier, Magalí; 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 Johannes Maria; Simons, Annet; Schaap, Nicolaas P.M.; Roodenburg, Richard J.; Kleefstra, Tjitske; Arenillas, Leonor; Fita-Torró, Josep; Ahmed, Rasha; Abboud, Miguel Raul; Bechara, Elie A.; Farah, Roula A.; Tamminga, Rienk Y.J.; Bottomley, Sylvia S.; Sánchez, M. J.; Huls, Gerwin A.; Swinkels, Dorine W.; Christodoulou, John; Fleming, Mark D.
(Ferrata Storti Foundation, 2018)
YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating ...