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Abdel Aissat, Alix de Becdelièvre, Lisa Golmard, Christian Vasseur, Catherine Costa, Asma Chaoui, Natacha Martin, Bruno Costes, Michel Goossens, Emmanuelle Girodon, Pascale Fanen and Alexandre Hinzpeter Combined Computational–Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level Human Mutation 34

Article first published online: 28 MAR 2013 | DOI: 10.1002/humu.22300

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Using fourteen different freely available in silico tools, we identified some exons in the CFTR gene presenting weaker splicing motifs than other exons. These exons exhibit higher rates of basal skipping as determined by minigene assays and are more likely to contain exon-skipping substitutions. Our approach, which identifies exons with some splicing signal weaknesses, will help researchers to find splicing mutations of clinical relevance.

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