Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.

@article{Koptides1999GerminalAS,
  title={Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.},
  author={Michael Koptides and C Hadjimichael and Panayiota Koupepidou and Alkis M Pierides and C Constantinou Deltas},
  journal={Human molecular genetics},
  year={1999},
  volume={8 3},
  pages={509-13}
}
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 clinical phenotypes, and the cardinal symptom is the formation of fluid-filled cysts in the kidneys. Previous work has provided data supporting the notion that cysts in ADPKD1 are focal in nature and form… CONTINUE READING
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