A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance

© 2019 European Thyroid Association Published by S. Karger AG, Basel. Background: Resistance to thyroid hormone beta (RTHβ) is characterized by elevated thyroid hormone and unsuppressed thyroid-stimulating hormone (TSH), caused by thyroid hormone receptor beta gene (THRB) defects. Most mutations pro...

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Bibliographic Details
Main Authors: Manassawee Korwutthikulrangsri, Chrysoula Dosiou, Alexandra M. Dumitrescu, Samuel Refetoff
Other Authors: Stanford University School of Medicine
Format: Article
Published: 2020
Subjects:
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/51272
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Institution: Mahidol University