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Novel mutations ofPKDgenes in the Czech population with autosomal dominant polycystic kidney disease

✍ Scribed by Obeidova, Lena; Elisakova, Veronika; Stekrova, Jitka; Reiterova, Jana; Merta, Miroslav; Tesar, Vladimir; Losan, Frantisek; Kohoutova, Milada

Book ID
125398570
Publisher
BioMed Central
Year
2014
Tongue
English
Weight
327 KB
Volume
15
Category
Article
ISSN
1471-2350

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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. 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