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Article

A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation.

Thyroid : official journal of the American Thyroid Association - 1 May 2008

Gozu Hulya Iliksu, Mueller Sandra, Bircan Rifat, Krohn Knut, Ekinci Gazenfer, Yavuzer Dilek, Sargin Haluk, Sargin Mehmet, Ones Tunc, Gezen Cem, Orbay Ekrem, Cirakoglu Beyazit, Paschke Ralf

Abstract excerpt

BACKGROUND: Up to date, three thyroid-stimulating hormone receptor (TSHR) germline variants have been reported for which no functional consequences have been detected by in vitro characterizations. However, familial nonautoimmune hyperthyroidism and hot nodules are clearly associated with constitutively activating TSHR germline mutations. We describe a family with a new TSHR germline mutation that is associated...

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Source

Identifiers

PMID: 18466076
DOI: 10.1089/thy.2007.0335

Genes

TSHR

Variants

Provenance

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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