## 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
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease
β Scribed by Ying-Cai Tan; Jon D. Blumenfeld; Raluca Anghel; Stephanie Donahue; Rimma Belenkaya; Marina Balina; Thomas Parker; Daniel Levine; Debra G.B. Leonard; Hanna Rennert
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 216 KB
- Volume
- 30
- Category
- Article
- ISSN
- 1059-7794
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## Communicated by Michel Goossens Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder mostly characterized by cyst formation in kidney tubules. The majority of ADPKD cases is caused by mutations in the PKD1 gene, but no prevalent mutation has been reported. By heteroduplex a
## 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
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