Associated Papers
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 AS et al.
European Journal of Endocrinology, 2013
A missense mutation in the seventh transmembrane domain constitutively activates the human Ca2+ receptor.
Zhao XM et al.
Febs Letters, 1999
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