| 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 |
| Gene_locus related to this paper: human-TG |
Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gruneiro-Papendieck L, Chiesa A, Gonzalez-Sarmiento R, Targovnik HM (2010)
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
Clinical Endocrinology (Oxf)
72 :112
Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gruneiro-Papendieck L, Chiesa A, Gonzalez-Sarmiento R, Targovnik HM (2010)
Clinical Endocrinology (Oxf)
72 :112