Article
Analysis of a large family with the second type of autosomal dominant polycystic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jan 1996
Veldhuisen B, Breuning M H, Wesby-van Swaay E, Boersma J, Peters D J
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder A mutation in at least three different genes can cause the disease. A mutation in the first gene, the PKD1 gene, which has been identified on chromosome 16p13.3, accounts for ADPKD in approximately 86% of the families with this disorder. In the majority of the other ADPKD families the disease is caused by a mutation in a...
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