title: A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia.
abstract: A novel compound heterozygous mutation, including c.935_997delinsTGG, in exons 5/6 of SLC22A12 (URAT1) was identified in a patient with renal hypouricemia. This case expands the molecular mechanisms of renal hypouricemia, and suggests a potential relationship with exercise-induced renal failure.
authors: Department of Pathophysiology, School of Pharmacy, Tokyo University of Pharmacy and Life Science, 1432-1 Horinouchi, Hachioji 192-0392, Tokyo, Japan.
authors: Kyoko
authors: K
authors: Fujita
authors: Department of Pathophysiology, School of Pharmacy, Tokyo University of Pharmacy and Life Science, 1432-1 Horinouchi, Hachioji 192-0392, Tokyo, Japan. Electronic address: ichida@toyaku.ac.jp.
authors: Kimiyoshi
authors: K
authors: Ichida
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D027361:Organic Anion Transporters / Q000235:genetics*; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics*; D014545:Urinary Calculi / Q000235:genetics*
chemical_list: D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human
keywords: Delins mutation; Heterozygous mutation; Renal hypouricemia; SLC22A12; URAT1