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Article

New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone.

The Journal of clinical investigation - 1 Nov 1992

Yen P M, Sugawara A, Refetoff S, Chin W W

Abstract excerpt

Generalized resistance to thyroid hormone (GRTH) is a syndrome of hyposensitivity to triiodothyronine (T3) that displays autosomal dominant inheritance. The genetic defect commonly lies in the ligand-binding domain of one of the TR beta alleles. Since there are two major thyroid hormone receptor (TR) isoforms, TR alpha and TR beta, it is not known how the mutant receptor mediates a dominant negative effect....

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Identifiers

PMID: 1430208
DOI: 10.1172/JCI116058
PMCID: PMC443242

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