A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
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DOI: 10.1186/s12887-018-1185-9
Abstract: BackgroundRenal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis and recurrent episodes of exercise-induced acute… read more here.
Keywords: variant; hypouricemia; renal hypouricemia; gene ... See more keywords