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The effects of URAT1/SLC22A12 nonfunctional variants,R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression

Urate transporter 1 (URAT1/SLC22A12), a urate transporter gene, is a causative gene for renal hypouricemia type 1. Among several reported nonsynonymous URAT1 variants, R90H (rs121907896) and W258X (rs121907892) are frequent causative mutations for renal hypouricemia. However, no case-control study h...

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Detalles Bibliográficos
Autores principales: Sakiyama, Masayuki, Matsuo, Hirotaka, Shimizu, Seiko, Nakashima, Hiroshi, Nakamura, Takahiro, Nakayama, Akiyoshi, Higashino, Toshihide, Naito, Mariko, Suma, Shino, Hishida, Asahi, Satoh, Takahiro, Sakurai, Yutaka, Takada, Tappei, Ichida, Kimiyoshi, Ooyama, Hiroshi, Shimizu, Toru, Shinomiya, Nariyoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731750/
https://www.ncbi.nlm.nih.gov/pubmed/26821810
http://dx.doi.org/10.1038/srep20148