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Article

Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance.

The Journal of clinical endocrinology and metabolism - 1 Apr 1992

Takeda K, Weiss R E, Refetoff S

Abstract excerpt

Generalized resistance to thyroid hormone (GRTH) is an inherited syndrome of reduced tissue responsiveness to thyroid hormone. Point mutations in the human thyroid hormone receptor-beta (hTR beta) gene of these patients, causing single amino acid substitutions, appear be different in unrelated individuals affected by the same syndrome. To localize mutations in the hTR beta gene, GC-clamped DNA fragments from...

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Identifiers

PMID: 1548332
DOI: 10.1210/jcem.74.4.1548332

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

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Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance.PMID 1548332Read ↗

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