Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes
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London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
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 ext...
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Full title
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes
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TN_cdi_doaj_primary_oai_doaj_org_article_439031d527bb4924b5f4d7dc8ff62cb2
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_439031d527bb4924b5f4d7dc8ff62cb2
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-019-50798-6
