Four novel mutations of the PKD2 gene in czech families with autosomal dominant polycystic kidney disease

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 Czech families for mutation in the PKD2...

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Bibliographic Details
Published in:	Human mutation Vol. 19; no. 5; p. 573
Main Authors:	Reiterová, J., Štekrová, J., Peters, D.J.M., Kapras, J., Kohoutová, M., Merta, M., Židovská, J.
Format:	Journal Article
Language:	English
Published:	New York Wiley Subscription Services, Inc., A Wiley Company 01-05-2002 Hindawi Limited
Subjects:	autosomal dominant polycystic kidney disease Codon, Nonsense - genetics Czech Republic Family Frameshift Mutation - genetics germline mutations heteroduplex analysis Heteroduplex Analysis - methods Humans Membrane Proteins - genetics Mutation - genetics Mutation, Missense - genetics PKD2 gene Polycystic Kidney, Autosomal Dominant - genetics Polymorphism, Genetic - genetics Polymorphism, Single-Stranded Conformational single strand conformation polymorphism analysis TRPP Cation Channels Czech Republic
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