Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes
Abstract 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...
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| Auteurs principaux: | , , , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2019
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/439031d527bb4924b5f4d7dc8ff62cb2 |
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