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.

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Bibliographic Details
Title:	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.
Authors:	Lia-Baldini, Anne-Sophie¹ asliabaldini@unilim.fr, Magdelaine, Corinne², Nizou, Angélique¹, Airault, Coraline¹, Salles, Jean-Pierre³, Moulin, Pierre³, Delemer, Brigitte⁴, Aitouares, Mina⁵, Funalot, Benoît^1,2, Sturtz, Franck^1,2, Lienhardt-Roussie, Anne⁶
Source:	European Journal of Endocrinology. Feb2013, Vol. 168 Issue 2, pK27-K34. 8p.
Database:	Academic Search Ultimate

Description
ISSN:	08044643
DOI:	10.1530/EJE-12-0714