Study of rs17251221 single nucleotide polymorphism of calcium sensing receptor gene and its association with calcium nephrolithiasis in a cohort of Egyptian calcium nephrolithiasis patients.
Abstract:Background: Calcium nephrolithiasis is the most common type of renal stones representing about 70-80% of all cases. Since calcium stones are a multifactorial disorder, both genetic and environmental factors predispose to disease occurrence. Previous studies have indicated that genetic polymorphisms of the calcium-sensing receptor (CASR) gene are highly associated with stone formation.CASR geners17251221 is an A/G transition substitution mutation which is located in an intron of the CASRgene.The aim of the pres… Show more
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