Advances and Perspectives in Genetics of Congenital Thyroid Disorders Associated with Thyroglobulin Gene Mutations

• 主要な著者: Héctor M.Targovnik (著者), Cintia E.Citterio (著者), Sofi a Siffo (著者), Carina M.Rivolta (著者)
• フォーマット: 図書
• 出版事項: Open Journal of Biological Sciences - Peertechz Publications, 2016-12-19.
• 主題: Review Article
• オンライン･アクセス: Connect to this object online.

<p>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 a...