A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
Abstract Background Renal 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-induce...
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BMC,
2018-06-01T00:00:00Z.
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