Article
Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.
Clinical endocrinology - 1 Jan 2010
Machiavelli Gloria A, Caputo Mariela, Rivolta Carina M, Olcese María C, Gruñeiro-Papendieck Laura, Chiesa Ana, González-Sarmiento Rogelio, Targovnik Héctor M
Abstract excerpt
BACKGROUND: Thyroglobulin (TG) deficiency is an autosomal-recessive disorder that results in thyroid dyshormonogenesis. A number of distinct mutations have been identified as causing human hypothyroid goitre. OBJECTIVES: The purpose of this study was to identify and characterize new mutations in the TG gene in an attempt to increase the understanding of the genetic mechanism responsible for this disorder. A total...
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