The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

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 tyrosine to its cognate mt-tRNA for mitochondrial protein synthesis. Here we des...

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Bibliografiset tiedot
Julkaisussa:Haematologica
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Ferrata Storti Foundation 2018
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6269294/
https://ncbi.nlm.nih.gov/pubmed/30026338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2017.182659
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