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
Work
Year: 2012
Type: article
Abstract: Objective Gain-of-function mutations of the calcium-sensing receptor ( CASR ) gene have been identified in patients with sporadic or familial autosomal dominant hypocalcemia (ADH). Inactivating mutati... more
Authors Anne-Sophie Lia-Baldini, Corinne Magdelaine, Angélique Nizou, Coraline Airault, Jean‐Pierre Salles +6 more
Institutions Université de Limoges, Centre Hospitalier Universitaire de Limoges, Hôpital des Enfants, Inserm, Université de Toulouse +5 more
Cites: 32
Cited by: 20
Related to: 10
FWCI: 1.085
Citation percentile (by year/subfield): 71.62
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Sustainable Development Goal Good health and well-being
Open Access status: bronze