Article
Modifier effect of the Glu298Asp polymorphism of endothelial nitric oxide synthase gene in autosomal-dominant polycystic kidney disease.
Nephron. Clinical practice - 1 Jan 2008
Stefanakis N, Ziroyiannis P, Trygonis S, Lamnissou K
Abstract excerpt
Autosomal-dominant polycystic kidney disease (ADPKD) is one of the most common monogenic diseases. It is characterized by a substantial variability in the severity of renal phenotype, primarily assessed by the age at end-stage renal disease (ESRD). The role of modifier genes has been shown in various hereditary diseases, including ADPKD. The gene coding for the endothelial nitric oxide synthase (NOS3) is...
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