Article
Structure and genetic variants of thyroglobulin: Pathophysiological implications.
Molecular and cellular endocrinology - 15 May 2021
Citterio Cintia E, Rivolta Carina M, Targovnik Héctor M
Abstract excerpt
Thyroglobulin (TG) plays a main role in the biosynthesis of thyroid hormones (TH), and, thus, it is involved in a wide range of vital functions throughout the life cycle of all vertebrates. Deficiency of TH production due to TG genetic variants causes congenital hypothyroidism (CH), with devastating consequences such as intellectual disability and impaired growth if untreated. To this day, 229 variations in the...
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