Article
Autosomal dominant polycystic kidney disease with minimal clinical expression unlinked to the PKD1 locus.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jan 1993
Wright G D, Hughes A E, Larkin K A, Doherty C C, Nevin N C
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations at the PKD1 locus in most families. This locus has been assigned to the short arm of chromosome 16 by linkage analysis. It has been estimated that approximately 5% of families have a disease that does not map to this locus and most of these families have clinical features indistinguishable from the disease caused by PKD1 mutations. We...
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