Article
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jul 2011
Hoefele Julia, Mayer Karin, Scholz Manuela, Klein Hanns-Georg
Abstract excerpt
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disorder with an incidence of 1:1000. Mutations in two genes (PKD1 and PKD2) have been identified as causative. Eighty-five percent of patients with ADPKD carry their mutation in the PKD1 gene. So far, > 500 mutations for PKD1 and > 120 mutations for PKD2, respectively, are known. METHODS: In this study, we performed...
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