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Article

Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.

Journal of molecular endocrinology - 1 Apr 2009

Cole David E C, Yun Francisco H J, Wong Betty Y L, Shuen Andrew Y, Booth Ronald A, Scillitani Alfredo, Pidasheva Svetlana, Zhou Xiang, Canaff Lucie, Hendy Geoffrey N

Abstract excerpt

The calcium-sensing receptor (CASR), a plasma membrane G-protein-coupled receptor, is expressed in parathyroid gland and kidney, and controls systemic calcium homeostasis. Inactivating CASR mutations are associated with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism, and activating mutations cause autosomal dominant hypocalcemia (ADH). CASR mutation identification plays an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19179454
DOI: 10.1677/JME-08-0164

Genes

CASR

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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