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| Title : Compound heterozygous DUOX2 gene mutations (c.2335-1G>C\/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis - Belforte_2016_Mol.Cell.Endocrinol_419_172 |
| Author(s) : Belforte FS , Citterio CE , Testa G , Olcese MC , Sobrero G , Miras MB , Targovnik HM , Rivolta CM |
| Ref : Mol Cell Endocrinol , 419 :172 , 2016 |
| Abstract : Belforte_2016_Mol.Cell.Endocrinol_419_172 |
| ESTHER : Belforte_2016_Mol.Cell.Endocrinol_419_172 |
| PubMedSearch : Belforte_2016_Mol.Cell.Endocrinol_419_172 |
| PubMedID: 26506010 |
| Title : Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7 - Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| Author(s) : Machiavelli GA , Caputo M , Rivolta CM , Olcese MC , Gruneiro-Papendieck L , Chiesa A , Gonzalez-Sarmiento R , Targovnik HM |
| Ref : Clinical Endocrinology (Oxf) , 72 :112 , 2010 |
| Abstract : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| ESTHER : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| PubMedSearch : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| PubMedID: 19438905 |
| Gene_locus related to this paper: human-TG |