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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Main Authors: Dinesha Maduri Vidanapathirana (Author), Subashinie Jayasena (Author), Eresha Jasinge (Author), Blanka Stiburkova (Author)
Format: Book
Published: BMC, 2018-06-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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