Extensive Molecular Analysis of Patients Bearing CFTR-Related Disorders Felice Amato, Chiara Bellia, Giuseppe Cardillo, Giuseppe Castaldo, Marcello Ciaccio,

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Extensive Molecular Analysis of Patients Bearing CFTR-Related Disorders Felice Amato, Chiara Bellia, Giuseppe Cardillo, Giuseppe Castaldo, Marcello Ciaccio, Ausilia Elce, Francesca Lembo, Rossella Tomaiuolo The Journal of Molecular Diagnostics Volume 14, Issue 1, Pages 81-89 (January 2012) DOI: 10.1016/j.jmoldx.2011.09.001 Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 A: Schematic structure of the empty pMGene construct and of the pMGene-CFTR exon constructs showing the position of the unclassified variants. Enhanced Green Fluorescent Protein (EGFP) is shown by a large gray box; β-globin exons (E1, E2, and E3) and CFTR exons, large white boxes; lines between exons, β-globin corresponding introns; and dotted lines, CFTR introns. The cytomegalovirus promoter (pCMV) is shown in a thin box; the arrows represent the primers used for the splicing pattern analysis. B: RT-PCR analysis of mRNA extracted from cell lines transfected with the indicated pMGene constructs. The Journal of Molecular Diagnostics 2012 14, 81-89DOI: (10.1016/j.jmoldx.2011.09.001) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions