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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Pubblicato in:Sci Rep
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2019
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Article
Accesso online: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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