Article
Three novel mutations at serine 314 in the thyroid hormone beta receptor differentially impair ligand binding in the syndrome of resistance to thyroid hormone.
Endocrinology - 1 Dec 1999
Gurnell M, Rajanayagam O, Agostini M, Clifton-Bligh R J, Wang T, Zelissen P M, van der Horst F, van de Wiel A, Macchia E, Pinchera A, Schwabe J W, Chatterjee V K
Abstract excerpt
The syndrome of resistance to thyroid hormone is associated with diverse mutations in the ligand-binding domain of the thyroid hormone beta receptor, localizing to three clusters around the hormone binding cavity. Here, we report three novel resistance to thyroid hormone mutations (S314C, S314F, and S314Y), due to different nucleotide substitutions in the same codon, occurring in six separate families. Functional...
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