Article
Progressive development of polycystic kidney disease in the mouse model expressing Pkd1 extracellular domain.
Human molecular genetics - 15 Jun 2013
Kurbegovic Almira, Trudel Marie
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by slow progression of multiple cysts in both kidneys that lead to renal insufficiency in mid-life or later. ADPKD is associated with mutations mainly in the PKD1 gene (encoding polycystin-1 or PC1) and less frequently in the PKD2 gene (encoding polycystin-2 or PC2). To mimic naturally occurring human PKD1 mutations and gain insight into the...
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