Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing
β Scribed by Yang, Tao; Meng, Yan; Wei, Xiaoming; Shen, Jiandong; Zhang, Mingrong; Qi, Chen; Wang, Chundan; Liu, Jiayin; Ma, Minrui; Huang, Shangzhi
- Book ID
- 122210697
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 595 KB
- Volume
- 433
- Category
- Article
- ISSN
- 0009-8981
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## 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