The most common form of autosomal dominant polycystic kidney disease (PKD) results from
mutation of the PKD1 gene on chromosome 16p13. 3. The gene encodes a 14-kb …

PKD1, the major gene mutated in autosomal dominant polycystic kidney disease, was
identified in 1994, and fully sequenced in 1995. The protein which it encodes, polycystin-1 …

PKD1, the gene that is mutated in approximately 85% of autosomal dominant polycystic
kidney disease (ADPKD) cases in humans, has recently been identified (Eur. PKD …

Polycystin-1 is the protein product of the PKD1 gene. Mutations in this gene are responsible
for most cases of polycystic kidney disease, but little is known about how these mutations …

The primary structure of polycystin predicts a large integral membrane protein with multiple
cell recognition motifs, but its function remains unknown. Insight into polycystin's normal …

PKD2, the second gene for the autosomal dominant polycystic kidney disease (ADPKD),
encodes a protein, polycystin-2, with predicted structural similarity to cation channel …

Mutations in PKD1 and PKD2, the genes that encode polycystin-1 and polycystin-2
respectively, account for almost all cases of autosomal dominant polycystic kidney disease …

Mutations in the PKD1 and PKD2 genes account for 85 and 15% of cases of autosomal
dominant polycystic kidney disease, respectively. Polycystin-2, the product of the PKD2 …

Using a positional cloning approach the major autosomal dominant polycystic kidney
disease (ADPKD) gene (PKD1) has been identified on chromosome 16: a disease …

Background In a majority of cases, autosomal dominant polycystic kidney disease (ADPKD)
is caused by mutations within a putative open reading frame of the PKD1 gene. The …