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.
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