Article
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Human mutation - 1 Jan 2001
Deltas C C
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited nephropathy, usually of late onset (onset between third to seventh decade), primarily characterized by the formation of fluid-filled cysts in the kidneys. It is one of the most frequent inherited conditions affecting approximately 1:1,000 Caucasians. Two major genes have been identified and characterized in detail: PKD1 and PKD2, mapping on...
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