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Article

Molecular diagnosis and characterization of thyroid hormone resistance syndromes.

Thyroid : official journal of the American Thyroid Association - 1 Jan 1991

Usala S J

Abstract excerpt

The genetic basis of generalized resistance to thyroid hormones (GRTH) is now well understood. In the majority of patients, diverse mutations in the T3-binding domain of the c-erbA beta thyroid hormone receptor gene result in variable clinical presentations. These mutations are dominant negative in that the mutant receptors inhibit the function of normal beta-receptor (from one allele) and normal alpha-receptor...

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Identifiers

PMID: 1668726
DOI: 10.1089/thy.1991.1.361

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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