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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 : New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism - Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| Author(s) : Citterio CE , Machiavelli GA , Miras MB , Gruneiro-Papendieck L , Lachlan K , Sobrero G , Chiesa A , Walker J , Munoz L , Testa G , Belforte FS , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 365 :277 , 2013 |
| Abstract : Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| ESTHER : Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| PubMedSearch : Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| PubMedID: 23164529 |
| Gene_locus related to this paper: human-TG |