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Identification of four novel mutations in the thyroid hormone receptor-β gene in 164 Spanish and 2 Greek patients with resistance to thyroid hormone.

Hormones (Athens, Greece) - 1 Jan 2000

Amor Antonio J, Halperin Irene, Alfayate Rocίo, Borrás Victoria M, Escribano Arancha, González Cintia, Gutirrez Antonio, Mauri Montserrat, Pérez Pilar, Picό Antonio, Vourliotaki Irene, Oriola Josep

Abstract excerpt

OBJECTIVE: The aim of the study was to describe the clinical, biochemical, and genetic features of a sample of Mediterranean patients with RTH (resistance to thyroid hormone) due to mutations in TRβ (thyroid hormone receptor beta) referred to our institution during the last 15 years. DESIGN: 166...

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PMID: 24722129
DOI: 10.1007/BF03401322

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24722129-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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