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| 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 : Siffo_2023_Endocrine_80_47 |
| ESTHER : Siffo_2023_Endocrine_80_47 |
| PubMedSearch : Siffo_2023_Endocrine_80_47 |
| PubMedID: 36547798 |
| Title : Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism - Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| Author(s) : Siffo S , Adrover E , Citterio CE , Miras MB , Balbi VA , Chiesa A , Weill J , Sobrero G , Gonzalez VG , Papendieck P , Martinez EB , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 473 :1 , 2018 |
| Abstract : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| ESTHER : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| PubMedSearch : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| PubMedID: 29275168 |
| Gene_locus related to this paper: human-TG |