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

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...

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Gepubliceerd in:Sci Rep
Hoofdauteurs: Cha, Do Hyeon, Gee, Heon Yung, Cachau, Raul, Choi, Jong Mun, Park, Daeui, Jee, Sun Ha, Ryu, Seungho, Kim, Kyeong Kyu, Won, Hong-Hee, Limou, Sophie, Myung, Woojae, Winkler, Cheryl A., Cho, Sung Kweon
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group UK 2019
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6779878/
https://ncbi.nlm.nih.gov/pubmed/31591475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-50798-6
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