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Please use this identifier to cite or link to this item: http://hdl.handle.net/2067/1472

Title: Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four italian kindreds with familial hypocalciuric hypercalcemia
Authors: Cetani, Filomena
Lemmi, Monica
Cervia, Davide
Borsari, Simona
Cianferotti, Luisella
Pardi, Elena
Ambrogini, Elena
Banti, Chiara
Brown, Edward M.
Bagnoli, Paola
Pinchera, Aldo
Marcocci, Claudio
Issue Date: 2009
Publisher: European Society of Endocrinology
Citation: Cetani, F. et al. 2009. Identification and functional characterization of lossof- function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia. "European Journal of Endocrinology" 160(3): 481-489
Abstract: Objective: Identification and characterization of calcium-sensing receptor (CASR) mutations in four unrelated Italian kindreds with familial hypocalciuric hypercalcemia. Design: Clinical evaluation and genetic analysis of CASR gene. Functional characterization of mutated CASRs. Methods: Direct sequencing of CASR gene in genomic DNA. Studies of CASR-mediated increases in cytosolic calcium concentration [Ca2C]i in CASR-transfected COS-7 cells in vitro. Results: Four unreported heterozygous CASR
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Description: L'articolo è disponibile sul sito dell'editore http://www.euro-endo.org/default.aspx
DOI: 10.1530/EJE-08-0798
URI: http://hdl.handle.net/2067/1472
ISSN: 0804-4643
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