Type I cystinuria and its genetic basis in a population of Turkish school children


Tanzer F., Ozgur A., Bardakci F.

INTERNATIONAL JOURNAL OF UROLOGY, cilt.14, ss.914-917, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 14 Konu: 10
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1111/j.1442-2042.2007.01852.x
  • Dergi Adı: INTERNATIONAL JOURNAL OF UROLOGY
  • Sayfa Sayıları: ss.914-917

Özet

Objectives: Cystinuria is a common inherited disorder characterized by an abnormal urinary excretion of cystine and dibasic amino acids resulting in nephrolithiasis. The SLC3A1 gene, which encodes a dibasic amino acid transporter protein, is involved in the pathogenesis of cystinuria. In the present study we aimed to investigate the prevalence of cystinuria among children in Sivas province (Central Anatolia, Turkey) and to study M467T and M467K mutations and 231T/A polymorphism in patients with cystinuria.