A novel compound heterozygous mutation in the SLC22A12 ( URAT1 ) gene in a Japanese patient associated with renal hypouricemia
Author:
Funder
Japan Society for the Promotion of Science
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference7 articles.
1. Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion;Ichida;J. Am. Soc. Nephrol.,2004
2. Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise in patients with or without renal hypouricemia;Ishikawa;Nephron,2002
3. Molecular identification of a renal urate-anion exchanger that regulates blood urate levels;Enomoto;Nature,2002
4. Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9);Anzai;J. Biol. Chem.,2008
5. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia;Matsuo;Am. J. Hum. Genet.,2008
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