Article
A Novel TRβ Mutation (R383H) in Resistance to Thyroid Hormone Syndrome Predominantly Impairs Corepressor Release and Negative Transcriptional Regulation
1 May 1998
Abstract excerpt
Resistance to thyroid hormone (RTH) is characterized by elevated serum thyroid hormones, failure to suppress pituitary TSH secretion, and variable T3 responsiveness in peripheral tissues. The disorder is associated with diverse mutations that cluster within three areas of the thyroid hormone beta(TR beta) receptor. Here, we report a novel RTH mutation (R383H), which is located in a region not known to harbor...
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