Autosomal dominant polycystic kidney disease (ADPKD) is an inherited nephropathy, usually of late onset (onset between third to seventh decade), primarily characterized by the formation of fluid-filled cysts in the kidneys. It is one of the most frequent inherited conditions affecting approximately
Characterization of the murine polycystic kidney disease (Pkd2) gene
β Scribed by P. Pennekamp; N. Bogdanova; M. Wilda; A. Markoff; H. Hameister; J. Horst; B. Dworniczak
- Publisher
- Springer-Verlag
- Year
- 1998
- Tongue
- English
- Weight
- 146 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0938-8990
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Since identification of the genes mutated in patients with Autosomal Dominant Polycystic Kidney Disease, PKD1 and PKD2, a large number of different germ line mutations in both genes have been found by conventional PCR-based mutation detection methods. Nevertheless, in approximately 40% of the PKD1 f
## 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