Article
Pathogenic mechanism of mutations in the thyroid hormone receptor β gene.
Journal of endocrinological investigation - 1 Jun 2012
Pongjantarasatian S, Wacharasindhu S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V
Abstract excerpt
BACKGROUND: Resistance to thyroid hormone (RTH) is characterized by a variable degree of reduced tissue sensitivity to thyroid hormone (TH). It is usually caused by mutations in the TH receptor-β (TRβ) gene. AIMS: To characterize clinical and molecular features of a Thai patient with RTH. Functional significance of the identified mutation as well as other uncharacterized TRβ mutations was also investigated....
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