Article
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
European journal of human genetics : EJHG - 1 Oct 2013
Stiburkova Blanka, Sebesta Ivan, Ichida Kimiyoshi, Nakamura Makiko, Hulkova Helena, Krylov Vladimir, Kryspinova Lenka, Jahnova Helena
Abstract excerpt
Renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid (UA) transport with severe complications, such as acute kidney injury (AKI). Type 1 is caused by a loss-of-function mutation in the SLC22A12 gene (URAT1), type 2 in the SLC2A9 gene (GLUT9). This article describes three Czech families with RHUC type 1. The serum UA in the probands was 0.9, 1.1 and 0.5 mg/dl...
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