Article
The diagnosis and prognosis of autosomal dominant polycystic kidney disease.
The New England journal of medicine - 18 Oct 1990
Parfrey P S, Bear J C, Morgan J, Cramer B C, McManamon P J, Gault M H, Churchill D N, Singh M, Hewitt R, Somlo S
Abstract excerpt
BACKGROUND: Autosomal dominant polycystic kidney disease is usually caused by a mutant gene at the PKD1 locus on the short arm of chromosome 16, but in about 4 percent of families with the disorder it is caused by unknown mutations elsewhere in the genome. The natural course of the disease in both genetic forms is not well characterized. METHODS: We studied 17 families with autosomal dominant polycystic kidney...
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