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

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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Autores principales: Do Hyeon Cha, Heon Yung Gee, Raul Cachau, Jong Mun Choi, Daeui Park, Sun Ha Jee, Seungho Ryu, Kyeong Kyu Kim, Hong-Hee Won, Sophie Limou, Woojae Myung, Cheryl A. Winkler, Sung Kweon Cho
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/439031d527bb4924b5f4d7dc8ff62cb2
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