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A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
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-induced acute...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6025733/ https://www.ncbi.nlm.nih.gov/pubmed/29958533 http://dx.doi.org/10.1186/s12887-018-1185-9 |