Article
Mutations in SLC26A1 Cause Nephrolithiasis.
American journal of human genetics - 2 Jun 2016
Gee Heon Yung, Jun Ikhyun, Braun Daniela A, Lawson Jennifer A, Halbritter Jan, Shril Shirlee, Nelson Caleb P, Tan Weizhen, Stein Deborah, Wassner Ari J, Ferguson Michael A, Gucev Zoran, Sayer John A, Milosevic Danko, Baum Michelle, Tasic Velibor, Lee Min Goo, Hildebrandt Friedhelm
Abstract excerpt
Nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system, affects about 5%-10% of individuals worldwide at some point in their lifetime and results in significant medical costs and morbidity. To date, mutations in more than 30 genes have been described as being associated with nephrolithiasis, and these mutations explain about 15% of kidney stone cases,...
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