Mechanisms by which thyroid hormone receptor mutations cause clinical syndromes of resistance to thyroid hormone.

doi:10.1089/thy.1994.4.485

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Article

Mechanisms by which thyroid hormone receptor mutations cause clinical syndromes of resistance to thyroid hormone.

Thyroid : official journal of the American Thyroid Association - 1 Jan 1994

Jameson J L

Abstract excerpt

Resistance to thyroid hormone (RTH) is an autosomal dominant disorder that is caused by mutations in the thyroid hormone receptor beta (TR beta) gene. The thyroid hormone receptor is a nuclear receptor that acts by binding to DNA to stimulate or repress gene transcription. Mutations that cause RT...

Topics

DNA
Humans
Mutation
Receptors, Thyroid Hormone
Thyroid Hormone Resistance Syndrome
Transcription, Genetic

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