Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

doi:10.1097/01.asn.0000061774.90975.25

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Article

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

Journal of the American Society of Nephrology : JASN - 1 May 2003

Magistroni Riccardo, He Ning, Wang Kairong, Andrew Robin, Johnson Ann, Gabow Patricia, Dicks Elizabeth, Parfrey Patrick, Torra Roser, San-Millan Jose L, Coto Eliecer, Van Dijk Marjan, Breuning Martijn, Peters Dorien, Bogdanova Nadja, Ligabue Giulia, Albertazzi Alberto, Hateboer Nick, Demetriou Kyproula, Pierides Alkis, Deltas Constantinos, St George-Hyslop Peter, Ravine David, Pei York

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2, account for the disease in approximately 80 to 85% and 10 to 15% of the cases, respectively. Significant interfamilial and intrafamilial renal disease variability in ADPKD has been well documented. Locus heterogeneity is a major determinant...

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PMID: 12707387
DOI: 10.1097/01.asn.0000061774.90975.25

Genes

PKD2
PKD1

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