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A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)

✍ Scribed by B. Veldhuisen; J.J. Saris; S. de Haij; T. Hayashi; D.M. Reynolds; T. Mochizuki; R. Elles; R. Fossdal; N. Bogdanova; M. A. van Dijk; E. Coto; D. Ravine; S. Nôrby; C. Verellen-Dumoulin; M.H. Breuning; S. Somlo; D.J.M. Peters

Book ID
117855153
Publisher
American Society of Human Genetics
Year
1997
Tongue
English
Weight
201 KB
Volume
61
Category
Article
ISSN
0002-9297

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Four novel mutations of the PKD2 gene in
Four novel mutations of the PKD2 gene in czech families with autosomal dominant polycystic kidney disease
✍ J. Reiterová; J. Štekrová; D.J.M. Peters; J. Kapras; M. Kohoutová; M. Merta; J. 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 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