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Article

Constitutive activation of the TSH receptor by spontaneous mutations affecting the N-terminal extracellular domain.

FEBS letters - 16 Jun 1997

Duprez L, Parma J, Costagliola S, Hermans J, Van Sande J, Dumont J E, Vassart G

Abstract excerpt

Activating mutations of the TSH receptor gene have been found in toxic adenomas and hereditary toxic thyroid hyperplasia. Up to now, all mutations have been located in the serpentine portion of the receptor. We now describe two additional mutations affecting Ser-281 (Ser-281-Thr and Ser-281-Asn) in the ectodomain of the receptor. After transfection in COS cells, both mutants displayed increased constitutive...

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Identifiers

PMID: 9224711
DOI: 10.1016/s0014-5793(97)00532-2

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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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