Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria

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Gok F., Ichida K., Topaloglu R.

NEPHROLOGY DIALYSIS TRANSPLANTATION, vol.18, no.11, pp.2278-2283, 2003 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 11
  • Publication Date: 2003
  • Doi Number: 10.1093/ndt/gfg385
  • Journal Name: NEPHROLOGY DIALYSIS TRANSPLANTATION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2278-2283
  • Hacettepe University Affiliated: No

Abstract

Background. Classical xanthinuria is classified into two categories: type I, deficient only in xanthine dehydrogenase (XDH) activity; and type II, deficient in both XDH and aldehyde oxidase. Both types present mainly with renal stones and lead to renal failure in some cases. We studied the molecular basis of xanthinuria in a Turkish family with two affected siblings.