Title : The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism - Siffo_2023_Endocrine_80_47 |
Author(s) : Siffo S , Gomes Pio M , Martinez EB , Lachlan K , Walker J , Weill J , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
Ref : Endocrine , 80 :47 , 2023 |
Abstract : |
PubMedSearch : Siffo_2023_Endocrine_80_47 |
PubMedID: 36547798 |
Title : The p.Cys1281Tyr variant in the hinge module\/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism - Gomes_2023_Mol.Cell.Endocrinol_572_111948 |
Author(s) : Gomes Pio M , Adrover E , Miras MB , Sobrero G , Molina MF , Scheps KG , Rivolta CM , Targovnik HM |
Ref : Mol Cell Endocrinol , 572 :111948 , 2023 |
Abstract : |
PubMedSearch : Gomes_2023_Mol.Cell.Endocrinol_572_111948 |
PubMedID: 37164149 |