Article
Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature.
Renal failure - 1 Jan 2006
Komatsuda Atsushi, Iwamoto Keiko, Wakui Hideki, Sawada Ken-ichi, Yamaguchi Akihiko
Abstract excerpt
BACKGROUND: Renal hypouricemia is an autosomal recessive disorder resulting from inactivating mutations in the urate transporter 1 (URAT1) encoded by SLC22A12. To date, 10 mutations have been identified and W258X in the URAT1 gene is the predominant cause in middle to southwestern Japan. However, it is still unclear whether there is a regional specific distribution of mutations in northern Japan. In this study,...
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