Article
Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
Human molecular genetics - 1 Mar 1999
Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Constantinou Deltas C
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for approximately 85% of cases whereas PKD2 on chromosome 4 accounts for approximately 15%. Mutations in the PKD3 gene are rare. All patients present with similar clin...
Topics
- Aged
- Base Sequence
- DNA
- Female
- Germ-Line Mutation
- Humans
- Loss of Heterozygosity
- Male
- Membrane Proteins
- Mutation
- Pedigree
- Polycystic Kidney, Autosomal Dominant
- Polymorphism, Single-Stranded Conformational
- TRPP Cation Channels