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Polycystin-2 Is a Novel Cation Channel Implicated in Defective Intracellular Ca2+ Homeostasis in Polycystic Kidney Disease

โœ Scribed by Peter M. Vassilev; Lei Guo; Xing-Zhen Chen; Yoav Segal; Ji-Bin Peng; Nuria Basora; Hermik Babakhanlou; Gabrielle Cruger; Marie Kanazirska; Chian-ping Ye; Edward M. Brown; Matthias A. Hediger; Jing Zhou


Book ID
115587635
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
220 KB
Volume
282
Category
Article
ISSN
0006-291X

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Autosomal dominant polycystic kidney disease (ADPKD) occurs mainly from mutations of polycystic kidney disease 1 (PKD1) gene. A novel mutation of the PKD1 gene due to a nucleotide substitution in splice-acceptor site of IVS13 (AG->TG) was identified by analyses of PKD1-cDNA and genomic DNA. The IVS1