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| Title : The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation - Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
| Author(s) : Pardo V , Vono-Toniolo J , Rubio IG , Knobel M , Possato RF , Targovnik HM , Kopp P , Medeiros-Neto G |
| Ref : J Clinical Endocrinology Metab , 94 :2938 , 2009 |
| Abstract : Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
| ESTHER : Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
| PubMedSearch : Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
| PubMedID: 19509106 |
| Gene_locus related to this paper: human-TG |
| Title : Naturally occurring mutations in the thyroglobulin gene - Vono-Toniolo_2005_Thyroid_15_1021 |
| Author(s) : Vono-Toniolo J , Rivolta CM , Targovnik HM , Medeiros-Neto G , Kopp P |
| Ref : Thyroid , 15 :1021 , 2005 |
| Abstract : Vono-Toniolo_2005_Thyroid_15_1021 |
| ESTHER : Vono-Toniolo_2005_Thyroid_15_1021 |
| PubMedSearch : Vono-Toniolo_2005_Thyroid_15_1021 |
| PubMedID: 16187910 |
| Title : Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism - Vono-Toniolo_2004_Arq.Bras.Endocrinol.Metabol_48_70 |
| Author(s) : Vono-Toniolo J , Kopp P |
| Ref : Arq Bras Endocrinol Metabol , 48 :70 , 2004 |
| Abstract : Vono-Toniolo_2004_Arq.Bras.Endocrinol.Metabol_48_70 |
| ESTHER : Vono-Toniolo_2004_Arq.Bras.Endocrinol.Metabol_48_70 |
| PubMedSearch : Vono-Toniolo_2004_Arq.Bras.Endocrinol.Metabol_48_70 |
| PubMedID: 15611820 |
| Gene_locus related to this paper: human-TG |