Article
Molecular and cellular pathogenesis of autosomal dominant polycystic kidney disease.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Jul 2011
Bastos A P, Onuchic L F
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common human life-threatening monogenic disorders. The disease is characterized by bilateral, progressive renal cystogenesis and cyst and kidney enlargement, often leading to end-stage renal disease, and may include extrarenal manifestations. ADPKD is caused by mutation in one of two genes, PKD1 and PKD2, which encode polycystin-1 (PC1) and...
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