Article
Thyroid hormone resistance syndrome: correlation of dominant negative activity and location of mutations.
The Journal of clinical endocrinology and metabolism - 1 Oct 1993
Nagaya T, Eberhardt N L, Jameson J L
Abstract excerpt
Generalized resistance to thyroid hormone (GRTH) is caused by multiple distinct mutations that cluster in two regions of the hormone-binding domain of the thyroid hormone beta-receptor. The mutant receptors are functionally inactive, but nevertheless inhibit normal receptor activity in a dominant negative manner. Four different GRTH mutants were studied in the transient expression assays to further examine their...
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