J. Clin. Lab. Anal. volume 28, issue 4, P328-334 2014 DOI: 10.1002/jcla.21689 View full text
|
|
Share
Grazia Maria Virzì, Alice Bruson, Valentina Corradi, Fiorella Gastaldon, Massimo de Cal, Marta Donà, Dinna N. Cruz, Maurizio Clementi, Claudio Ronco

Abstract: We have developed a strategy for rapid mutation analysis of the PKD2 gene in ADPKD families, which utilizes an HRM-based prescreening followed by direct sequencing of amplicons with abnormal profiles. This is a simple and good technique for PKD2 genotyping and may significantly reduce the time and cost for diagnosis in ADPKD.