Open Access. Powered by Scholars. Published by Universities.®
- Publication
- Publication Type
Articles 1 - 2 of 2
Full-Text Articles in Chemicals and Drugs
Full Issue: The International Undergraduate Journal Of Health Sciences, Volume 1, Issue 1, June 2021
Full Issue: The International Undergraduate Journal Of Health Sciences, Volume 1, Issue 1, June 2021
International Undergraduate Journal of Health Sciences
The full June 2021 issue (Volume 1, Issue 1) of the International Undergraduate Journal of Health Sciences
Advances And Perspectives In Genetics Of Congenital Thyroid Disorders Associated With Thyroglobulin Gene Mutations, Héctor M. Targovnik, Cintia E. Citterio, Sofi Siffo, Carina M. Rivolta
Advances And Perspectives In Genetics Of Congenital Thyroid Disorders Associated With Thyroglobulin Gene Mutations, Héctor M. Targovnik, Cintia E. Citterio, Sofi Siffo, Carina M. Rivolta
Pharmacy Faculty Articles and Research
Dyshormonogenesis due to thyroglobulin (TG) gene mutations is a rare cause of congenital hypothyroidism with an estimated incidence of approximately 1 in 100,000 newborns. The TG gene is organized in 48 exons, spanning over 270 kb on human chromosome 8q24. The human TG mRNA is 8.5 Kb long and the preprotein monomer is composed of a 19 amino acids signal peptide followed by a 2749 residues polypeptide. Until now, one hundred seventeen deleterious mutations in the human TG gene have been identified and characterized, originating structural changes in the protein that alter the normal protein folding, assembly and …