## Paalman Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disorder (incidence, 1:1,000). The mutation of PKD1 is thought to account for 85% of ADPKD. Although a considerable number of studies on PKD1 mutation have been published recently, most of them concern Caucasi
β¦ LIBER β¦
Presence of De Novo Mutations in Autosomal Dominant Polycystic Kidney Disease Patients Without Family History
β Scribed by Berenice Reed; Kim McFann; William J. Kimberling; York Pei; Patricia A. Gabow; Karen Christopher; Eric Petersen; Catherine Kelleher; Pamela R. Fain; Ann Johnson; Robert W. Schrier
- Book ID
- 114468725
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 204 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0272-6386
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## Communicated by Mark H. Paalman Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease caused by mutations in at least three different loci. Mutations in the PKD2 gene are responsible for approximately 15% of the cases of the disease. We have screened 14 Cze