Gene Amlification as a Common Cause of Inherited Thyroxine-Binding globulin Excess: Analysis of One Familial and two Sporadic Cases

摘要

T_4-binding globulin (TBG) is the major thyroid hormone transport protein in humans. Inherited abnormalities in the elvel of serum TBG have been classified as partialdeficiency, complete deficiency and excess. A signle nucleotide deletion or substitution in the TBG gene, located on Xq22, has been detected in partial and complete deficiencies.