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Article

Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors.

The Journal of clinical endocrinology and metabolism - 1 Dec 2008

Rus Ramona, Haag Christine, Bumke-Vogt Christiane, Bähr Volker, Mayr Bernhard, Möhlig Matthias, Schulze Egbert, Frank-Raue Karin, Raue Friedhelm, Schöfl Christof

Abstract excerpt

CONTEXT AND OBJECTIVE: Inactivating mutations in the calcium-sensing receptor (CaSR) gene cause neonatal severe hyperparathyroidism and familial hypocalciuric hypercalcemia (FHH). The aims of the present study were the functional characterization of novel mutations of the CaSR found in FHH patients, the comparison of in vitro receptor function with clinical parameters, and the effect of the allosteric...

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Source

Identifiers

PMID: 18796518
DOI: 10.1210/jc.2008-1076

Genes

NPS
PTH

Variants

Provenance

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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Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors.PMID 18796518Read ↗

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