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, cilt.18, sa.11, ss.2278-2283, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 11
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1093/ndt/gfg385
  • Dergi Adı: NEPHROLOGY DIALYSIS TRANSPLANTATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2278-2283
  • Hacettepe Üniversitesi Adresli: Hayır

Özet

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.