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Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes

7 Oct 2019

Abstract excerpt

Differentiating between inherited renal hypouricemia and transient hypouricemic status is challenging. Here, we aimed to describe the genetic background of hypouricemia patients using whole-exome sequencing (WES) and assess the feasibility for genetic diagnosis using two founder variants in primary screening. We selected all cases (N = 31) with extreme hypouricemia (<1.3 mg/dl) from a Korean urban cohort of...

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PMID: 31591475
DOI: 10.1038/s41598-019-50798-6

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