Identification of TSH receptor mutations in three families with resistance to TSH.

doi:10.1111/j.1365-2265.2007.02950.x

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Article

Identification of TSH receptor mutations in three families with resistance to TSH.

Clinical endocrinology - 1 Nov 2007

Tonacchera Massimo, Di Cosmo Caterina, De Marco Giuseppina, Agretti Patrizia, Banco Mariaelena, Perri Anna, Gianetti Elena, Montanelli Lucia, Vitti Paolo, Pinchera Aldo

Abstract excerpt

OBJECTIVE: Genetic analysis of the TSH receptor gene in seven subjects with subclinical hypothyroidism (SH), in whom the diagnosis of autoimmune thyroid disease had been excluded by laboratory and instrumental techniques currently available. PATIENTS: Three families where different members (2 children and 5 adults) affected by SH were studied. GENETIC ANALYSIS: Genomic DNA was extracted from peripheral...

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PMID: 17697008
DOI: 10.1111/j.1365-2265.2007.02950.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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