Putative mutation of PKD1 gene responsible for autosomal dominant polycystic kidney disease in a Chinese family
β Scribed by Jing Li; Chaowen Yu; Ye Tao; Yuan Yang; Zhangxue Hu; Sizhong Zhang
- Book ID
- 108980317
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 247 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0919-8172
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## 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
## 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
Autosomal dominant polycystic kidney disease (ADPKD) arises from mutations in the PKD1 and PKD2 genes. The Polycystic Kidney Disease Mutation Database (PKDB) is an internet-accessible relational database containing comprehensive information about germline and somatic disease-causing variants within