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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...
Autores principales: | 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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Ferrata Storti Foundation
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269294/ https://www.ncbi.nlm.nih.gov/pubmed/30026338 http://dx.doi.org/10.3324/haematol.2017.182659 |
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