The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.
Komoda F, Sekine T, Inatomi J, Enomoto A, Endou H, Ota T, Matsuyama T, Ogata T, Ikeda M, Awazu M, Muroya K, Kamimaki I, Igarashi T.
Komoda F, et al. Among authors: ikeda m.
Pediatr Nephrol. 2004 Jul;19(7):728-33. doi: 10.1007/s00467-004-1424-1. Epub 2004 Mar 31.
Pediatr Nephrol. 2004.
PMID: 15054642