Article
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
Molecular and cellular endocrinology - 30 Jan 2013
Citterio Cintia E, Machiavelli Gloria A, Miras Mirta B, Gruñeiro-Papendieck Laura, Lachlan Katherine, Sobrero Gabriela, Chiesa Ana, Walker Joanna, Muñoz Liliana, Testa Graciela, Belforte Fiorella S, González-Sarmiento Rogelio, Rivolta Carina M, Targovnik Héctor M
Abstract excerpt
The thyroglobulin (TG) gene is organized in 48 exons, spanning over 270 kb on human chromosome 8q24. Up to now, 62 inactivating mutations in the TG gene have been identified in patients with congenital goiter and endemic or non-endemic simple goiter. The purpose of the present study was to identify and characterize new mutations in the TG gene. We report 13 patients from seven unrelated families with goiter,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.