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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Sci Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2019
Assuntos:
Article
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares