Article
Defective metabolism in polycystic kidney disease: potential for therapy and open questions.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Aug 2014
Rowe Isaline, Boletta Alessandra
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder characterized by bilateral renal cyst formation. The disease is caused by mutations in either the PKD1 or the PKD2 gene. Progress has been made in understanding the molecular basis of the disease leading to the gene...
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