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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主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2008
主題:
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オンライン･アクセス: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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