Article
Usefulness of combined genetic data in Hungarian families affected by autosomal dominant polycystic kidney disease.
Molecular and cellular probes - 1 Feb 2009
Endreffy Emoke, Maróti Zoltán, Bereczki Csaba, Túri Sándor
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary diseases. Mutations of two known genetic loci (PKD1: 16p13.3 and PKD2: 4q21.2) can lead to bilateral renal cysts. The PKD1 locus is the more common ( approximately 85%), with a more severe phenotype. Because of the genetic complexity of ADPKD and the size and complexity of the PKD1 gene, pedigree-based linkage analysis is a...
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