Article

Genetic predisposition to hypouricemia on whole-exome sequencing analysis and its utilities in primary screening purposes

2018-11-08

Abstract excerpt

Differentiating between inherited renal hypouricemia and transient hypouricemia is challenging. Here, we aimed to describe the genetic predisposition of hypouricemia patients using whole-exome sequencing (WES) and assess the feasibility for genetic diagnosis in primary screening. WES was performed for the discovery of diagnostic markers in discovery cohorts (N=31). Two known genetic markers SLC22A12 c.774G>A (p.T...

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Literature Corpus work: cc14fec6-d532-5cf2-89ac-d8637f854547
DOI: 10.1101/459727

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