The p.pro2232leu variant in the chel domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism

HIGHLIGHTS

  • who: Posted Date October and collaborators from the University of Buenos Aires Faculty of Pharmacy and Biochemistry: Universidad de Buenos Aires Facultad de Farmacia y Bioquimica have published the research work: The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism, in the Journal: (JOURNAL)
  • what: The authors report that the human p.P2232L TG variant, previously considered as a simple neutral polymorphism, causes significant intracellular retention in HEK293T_cells and further confirm that the ChEL domain plays a key role in the intracellular trafficking of the TG . . .

     

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