Article
Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.
Human mutation - 1 May 2002
Reiterová J, Stekrová J, Peters D J M, Kapras J, Kohoutová M, Merta M, Zidovská J
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease caused by mutations in at least three different loci. Mutations in the PKD2 gene are responsible for approximately 15% of the cases of the disease. We have screened 14 Czech families for mutation in the PK...
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