Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia

Renal hypouricemia is an inherited disorder characterized by impaired renal urate (uric acid) reabsorption and subsequent low serum urate levels, with severe complications such as exercise-induced acute renal failure and nephrolithiasis. We previously identified SLC22A12, also known as URAT1, as a c...

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Autors principals: Matsuo, Hirotaka, Chiba, Toshinori, Nagamori, Shushi, Nakayama, Akiyoshi, Domoto, Hideharu, Phetdee, Kanokporn, Wiriyasermkul, Pattama, Kikuchi, Yuichi, Oda, Takashi, Nishiyama, Junichiro, Nakamura, Takahiro, Morimoto, Yuji, Kamakura, Keiko, Sakurai, Yutaka, Nonoyama, Shigeaki, Kanai, Yoshikatsu, Shinomiya, Nariyoshi
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2008
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668068/
https://ncbi.nlm.nih.gov/pubmed/19026395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.11.001
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