Article
Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jan 2002
Ding Lan, Zhang Sizhong, Qiu Weimin, Xiao Cuiying, Wu Shaoqing, Zhang Ge, Cheng Lu, Zhang Sixiao
Abstract excerpt
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a common disease in China. The major gene responsible for ADPKD, PKD1, has been fully characterized and shown to encode an integral membrane protein, polycystin 1, which is thought to be involved in cell-cell and cell-matrix interaction. Until now, 82 mutations of PKD1 gene have been reported in European, American, and Asian populations. However,...
Topics
- Amino Acid Sequence
- Humans
- Molecular Sequence Data
- Mutation
- Mutation, Missense
- Polycystic Kidney, Autosomal Dominant
- Promoter Regions, Genetic
- Proteins
- TRPP Cation Channels