𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Presence of De Novo Mutations in Autosomal Dominant Polycystic Kidney Disease Patients Without Family History

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Mutation analysis in PKD1 of Japanese au
✍ Sumiko Inoue; Kayoko Inoue; Maki Utsunomiya; Jun-Ichi Nozaki; Yuichiro Yamada; T πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 391 KB

## 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

Four novel mutations of the PKD2 gene in
✍ J. ReiterovΓ‘; J. Ε tekrovΓ‘; D.J.M. Peters; J. Kapras; M. KohoutovΓ‘; M. Merta; J. πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 154 KB

## 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