Article
A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency.
Endocrine - 1 Aug 2009
Domingues Rita, Font Paula, Sobrinho Luís, Bugalho Maria João
Abstract excerpt
Thyroxine-binding globulin (TBG) carries approximately 75% of serum T4 and T3. This protein is encoded by serpina7 gene, formerly known as TBG gene, localized on X-chromosome (Xq22.2). A deficiency in TBG is suspected when abnormally low serum total T4 and T3 are encountered in clinically euthyroid subjects in the presence of normal serum TSH. This condition has been associated with different serpina7 gene...
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