A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations.

doi:10.1016/s0140-6736(98)06434-4

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Article

A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations.

Lancet (London, England) - 9 Jan 1999

Cole D E, Peltekova V D, Rubin L A, Hawker G A, Vieth R, Liew C C, Hwang D M, Evrovski J, Hendy G N

Abstract excerpt

BACKGROUND: The regulation of extracellular calcium concentration by parathyroid hormone is mediated by a calcium-sensing, G-protein-coupled cell-surface receptor (CASR). Mutations of the CASR gene alter the set-point for extracellular ionised calcium [Ca2+]o and cause familial hypercalcaemia or hypocalcaemia. The CASR missense polymorphism, A986S, is common in the general population and is, therefore, a prime...

Topics

Adolescent
Adult
Calcium
Female
Genetic Predisposition to Disease
Genetic Variation
Genotype
Humans
Hypercalcemia
Hypocalcemia
Linkage Disequilibrium
Polymorphism, Genetic
Prospective Studies
Receptors, Calcium-Sensing

Source

Open in PubMed

Identifiers

PMID: 10023897
DOI: 10.1016/s0140-6736(98)06434-4

Genes

CASR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Receptors, Cell Surface