Article
Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2.
Nucleosides, nucleotides & nucleic acids - 1 Jan 2014
Chiba Toshinori, Matsuo Hirotaka, Nagamori Shushi, Nakayama Akiyoshi, Kawamura Yusuke, Shimizu Seiko, Sakiyama Masayuki, Hosoyamada Makoto, Kawai Sayo, Okada Rieko, Hamajima Nobuyuki, Kanai Yoshikatsu, Shinomiya Nariyoshi
Abstract excerpt
Hypouricemia is characterized by low serum uric acid (SUA) levels (≤3.0 mg/dL) with complications such as urolithiasis and exercise-induced acute renal failure. We have previously reported that urate transporter 1 (URAT1/SLC22A12) and glucose transporter 9 (GLUT9/SLC2A9) are causative genes for renal hypouricemia type 1 (RHUC1) and renal hypouricemia type 2 (RHUC2), respectively. In the series of experiments, two...
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