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Article

Four families with loss of function mutations of the thyrotropin receptor.

The Journal of clinical endocrinology and metabolism - 1 Dec 1996

de Roux N, Misrahi M, Brauner R, Houang M, Carel J C, Granier M, Le Bouc Y, Ghinea N, Boumedienne A, Toublanc J E, Milgrom E

Abstract excerpt

We observed four families with loss of function mutations of the TSH receptor gene. One patient had a homozygous Pro162 Ala substitution. The three other were compound heterozygotes: 1) Gln324-->Stop and Asp410 Asn2), Cys41 Ser and Phe525 Leu, 3) Cys390 Trp and Trp546-->Stop. In all patients, the...

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Source

Identifiers

PMID: 8954020
DOI: 10.1210/jcem.81.12.8954020

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8954020-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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