Article
Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients.
Physiological reports - 1 Apr 2016
Tang Xiaojing, Brown Matthew R, Cogal Andrea G, Gauvin Daniel, Harris Peter C, Lieske John C, Romero Michael F, Chang Min-Hwang
Abstract excerpt
Dent disease type 1, an X-linked inherited kidney disease is caused by mutations in electrogenic Cl(-)/H(+) exchanger, ClC-5. We functionally studied the most frequent mutation (S244L) and two mutations recently identified in RKSC patients, Q629X and R345W. We also studied T657S, which has a high minor-allele frequency (0.23%) in the African-American population, was published previously as pathogenic to cause...
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