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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
(Ferrata Storti Foundation, 2018)
variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for ...
Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
(Springer Nature, 2018)
Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an ...