Article
[From gene to disease; from polycystines to polycystic kidney disease].
Nederlands tijdschrift voor geneeskunde - 27 Jan 2001
Peters D J, Paul L C
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease that results in multiple cysts in the kidneys and other organs and leads to endstage renal failure relatively late in life. The disease results from mutations in one of two independently segregating genes that under normal conditions produce polycystines. Polycystines are membrane proteins that form a complex involved in signal transduction...
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