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Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity.
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Y. Hayashi
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S. Refetoff
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J. Pohlenz
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A. Sakurai
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H. Yagi
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