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

Clinical Biochemistry, ISSN: 0009-9120, Vol: 40, Issue: 8, Page: 551-561
2007
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Article Description

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.

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