Article
PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 May 2004
Stekrová Jitka, Reiterová Jana, Merta Miroslav, Damborsky Jirt, Zidovská Jana, Kebrdlová Vera, Kohoutová Milada
Abstract excerpt
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous and caused by mutations in at least three different loci. Based on linkage analysis, mutations in the PKD2 gene are responsible for approximately 15% of the cases. PKD2-linked ADPKD is supposed to be a milder form of the disease, its mean age of end-stage renal failure (ESRF) approximately 20 years later than PKD1....
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