## Background: Autosomal-dominant polycystic kidney disease (adpkd) is characterized by gradual renal enlargement and cyst growth prior to loss of renal function. standard radiographic imaging has not provided the resolution and accuracy necessary to detect small changes in renal volume or to relia
DNA microsatellite analysis in families with autosomal dominant polycystic kidney disease (ADPKD): the first Polish study
β Scribed by Agnieszka Binczak-Kuleta; Jacek Rozanski; Leszek Domanski; Marek Myslak; Kazimierz Ciechanowski; Andrzej Ciechanowicz
- Publisher
- Springer-Verlag
- Year
- 2006
- Tongue
- English
- Weight
- 197 KB
- Volume
- 47
- Category
- Article
- ISSN
- 1234-1983
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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
Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred
Sixty-seven Italian patients with auto-soma1 dominant polycystic kidney disease (ADPKD) were screened for mutations in the 3' unique region of the PKDl gene, using heteroduplex DNA analysis. Novel aberrant bands were detected in 3 patients from the same family. DNA sequencing showed a C to T transit