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Genotype and phenotype correlation of calcium-sensing receptor variants.

作者信息

Kung A W C

机构信息

Department of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong.

出版信息

Kidney Int. 2007 Jun;71(11):1085-6. doi: 10.1038/sj.ki.5002246.

DOI:10.1038/sj.ki.5002246
PMID:17522693
Abstract

Mutations of the calcium-sensing receptor (CaR) gene give rise to disorders of renal calcium excretion. It is now demonstrated that even common variants of CaR can cause alteration in tissue sensitivity to extracellular calcium and are associated with primary hypercalciuria. Agents targeting these functional domains may well be an option for the management of hypercalciuria and renal stones.

摘要

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