Two novel mutations of the calcium-sensing receptor gene...

European Journal of Endocrinology 2013 / 01 Vol. 168; Iss. 2

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity

Lia-Baldini, A.-S., Magdelaine, C., Nizou, A., Airault, C., Salles, J.-P., Moulin, P., Delemer, B., Aitouares, M., Funalot, B., Sturtz, F., Lienhardt-Roussie, A.
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Volume:
168
Language:
english
Journal:
European Journal of Endocrinology
DOI:
10.1530/eje-12-0714
Date:
January, 2013
File:
PDF, 365 KB
english, 2013
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