Novel mutations in the 3' region of the polycystic kidney disease 1 (PKD1) gene
β Scribed by A.R. Afzal; M. Hand; E. Ternes-Pereira; A. Saggar-Malik; R. Taylor; S. Jeffery
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 80 KB
- Volume
- 105
- Category
- Article
- ISSN
- 0340-6717
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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 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
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