Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1
and PKD2. However, genetic analysis is complicated by six PKD1 pseudogenes, large gene …

A genetic diagnosis of autosomal‐dominant polycystic kidney disease (ADPKD) is
challenging due to allelic heterogeneity, high GC content, and homology of the PKD1 gene …

Molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) relies on
mutation screening of PKD 1 and PKD 2, which is complicated by extensive allelic …

Mutations in two large multi-exon genes, PKD1 and PKD2, cause autosomal dominant
polycystic kidney disease (ADPKD). The duplication of PKD1 exons 1–32 as six …

Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney
disorder, is caused by mutations in PKD1 or PKD2. The molecular diagnosis of ADPKD is …

Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease
(ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes …

Purpose Autosomal dominant polycystic kidney disease (ADPKD) represents the most
common hereditary nephropathy. Despite growing evidence for genetic heterogeneity …

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common
inherited kidney disease that accounts for 5–10% of end-stage renal disease in developed …

Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by mutations of
two genes, PKD1 and PKD2. In the presence of a positive family history of ADPKD, genetic …

Background Mutations of PKD1 and PKD2 accounted for the most cases of autosomal
dominant polycystic kidney disease (ADPKD). The presence of the large transcript …