Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia.

Interestingly, a remarkable reduction in the efficacy of the cells expressing the homozygous D126V- CASR was observed, as there was a highly significant decrease in the efficacy (E max ) to 50 ± 10% ( P < 0.01) compared to WT.

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