| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10956219 | Molecular and Cellular Endocrinology | 2013 | 15 Pages |
Abstract
⺠We report 13 patients with hypothyroidism due to thyroglobulin gene mutations. ⺠Molecular analysis reveals seven novels and three previously reported mutations. ⺠One patient carried three mutations together with a hypothetical micro deletion. ⺠The p.C1262Y induces a significant protein secondary structure rearrangement. ⺠Our results confirm the genetic heterogeneity of thyroglobulin defects.
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Authors
Cintia E. Citterio, Gloria A. Machiavelli, Mirta B. Miras, Laura Gruñeiro-Papendieck, Katherine Lachlan, Gabriela Sobrero, Ana Chiesa, Joanna Walker, Liliana Muñoz, Graciela Testa, Fiorella S. Belforte, Rogelio González-Sarmiento, Carina M. Rivolta,