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Article

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

The Journal of clinical investigation - 1 Dec 1995

Pearce S H, Trump D, Wooding C, Besser G M, Chew S L, Grant D B, Heath D A, Hughes I A, Paterson C R, Whyte M P

Abstract excerpt

Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We have undertaken studies to characterize such CaR mutations in FBH and NHPT and to explore methods...

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Identifiers

PMID: 8675635
DOI: 10.1172/JCI118335
PMCID: PMC185975

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8675635-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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