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A Novel Activating Mutation in Calcium-Sensing Receptor Gene Associated with a Family of Autosomal Dominant Hypocalcemia1

1 Jan 1999

Abstract excerpt

Autosomal dominant hypocalcemia (ADH), caused by activating mutations of the calcium-sensing receptor (CaSR), is characterized by hypocalcemia with an inappropriately low concentration of PTH. Among 11 missense mutations of CaSR reported to date in patients with ADH or sporadic hypocalcemia, functional properties of 8 mutant CaSRs were characterized. Here, we describe a novel mutation of CaSR and its functional...

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Erythrocyte Function and Pathophysiology
Parathyroid Disorders and Treatments
Regulation of Appetite and Obesity

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PMID: 9920108
DOI: 10.1210/jcem.84.1.5385

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A Novel Activating Mutation in Calcium-Sensing Receptor Gene Associated with a Family of Autosomal Dominant Hypocalcemia1PMID 9920108Read ↗

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