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Article

Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.

Clinical endocrinology - 1 Feb 2009

De Marco Giuseppina, Agretti Patrizia, Camilot Marta, Teofoli Francesca, Tatò Luciano, Vitti Paolo, Pinchera Aldo, Tonacchera Massimo

Abstract excerpt

OBJECTIVES: To establish the role of new TSH receptor (TSHr) variants (P27T, E34 K, R46P, D403N, W488R and M527T) recently identified in children with congenital hypothyroidism (CH) or subclinical hypothyroidism (SH) with a thyroid gland of normal size. DESIGN AND MEASUREMENTS: TSHr variants were obtained by mutagenesis. Wild-type (wt) and TSHr mutants were expressed in COS cells and cAMP assay, (125)I-TSH...

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PMID: 18727713
DOI: 10.1111/j.1365-2265.2008.03333.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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