Endocrine Abstracts

Background: Thyroxine-binding globulin (TBG) is the major human thyroid hormone transport protein. It is encoded by the SERPINA7 gene, located on the long arm of the X chromosome (Xq22.2). Inherited TBG abnormalities result in complete (TBG-CD) or partial (TBG-PD) TBG deficiency. We performed a comprehensive molecular analysis of the SERPINA7 gene in a Brazilian family with TBG-PD.Methods: Genomic DNA was extracted from the female proband, her father, di...