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Article

Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics.

Clinical biochemistry - 1 May 2007

Yun Francisco H J, Wong Betty Y L, Chase Maretta, Shuen Andrew Y, Canaff Lucie, Thongthai Kansuda, Siminovitch Katherine, Hendy Geoffrey N, Cole David E C

Abstract excerpt

OBJECTIVES: The calcium-sensing receptor (CASR) is critical for maintenance of blood calcium in a narrow physiologic range. Naturally occurring mutations in the calcium-sensing receptor gene (CASR) cause hypocalcaemia or hypercalcaemia, and molecular diagnosis of these mutations is clinically important. Knowledge of SNP frequency and haplotype structure is essential in understanding molecular test results. DESIGN...

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Identifiers

PMID: 17320849
DOI: 10.1016/j.clinbiochem.2006.12.011

Genes

CASR

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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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