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C65G, Sec-TCA, Euthyroid hyperthyroxinemia; selenium deficiency (only homozygous mutations)

tRNA variant C65G
Gene Sec-TCA
Disease Euthyroid hyperthyroxinemia; selenium deficiency (only homozygous mutations)
Description Reduced expression of stress-related selenoproteins
tRNAs trbR00001097, tdbR00000805
Publications
  • Inherited Selenocysteine Transfer RNA Mutation: Clinical and Hormonal Evaluation of 2 Patients.
    Aurore Geslot, Frédérique Savagner, Philippe Caron
    European thyroid journal
    volume: 10 issue: 6 epub: Aug. 26, 2021 PUBMED ID: 34956927 DOI: 10.1159/000518275
  • Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis.
    Erik Schoenmakers, Bradley Carlson, Maura Agostini, Carla Moran, Odelia Rajanayagam, Elena Bochukova, Ryuta Tobe, Rachel Peat, Evelien Gevers, Francesco Muntoni, Pascale Guicheney, Nadia Schoenmakers, Sadaf Farooqi, Greta Lyons, Dolph Hatfield, Krishna Chatterjee
    The Journal of clinical investigation
    volume: 126 issue: 3 date: March 1, 2016 epub: Feb. 8, 2016 PUBMED ID: 26854926 DOI: 10.1172/JCI84747