B. M. Ciminelli, A. Bonizzato, C. Bombieri, F. Pompei, M. Gabaldo, C

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Presentation transcript:

Highly preferential association of NonF508del CF mutations with the M470 allele B.M. Ciminelli, A. Bonizzato, C. Bombieri, F. Pompei, M. Gabaldo, C. Ciccacci, A. Begnini, A. Holubova, P. Zorzi, T. Piskackova, M. Macek, C. Castellani, G. Modiano, P.F. Pignatti Journal of Cystic Fibrosis Volume 6, Issue 1, Pages 15-22 (January 2007) DOI: 10.1016/j.jcf.2006.04.003 Copyright © 2006 European Cystic Fibrosis Society Terms and Conditions

Fig. 1 Correlation between the proportion of variable sites where the minor allele is only associated with the M allele and their distance from the M470V site. Journal of Cystic Fibrosis 2007 6, 15-22DOI: (10.1016/j.jcf.2006.04.003) Copyright © 2006 European Cystic Fibrosis Society Terms and Conditions

Fig. 2 Contribution of M/V genotypes to the overall individual risk of being heterozygous for a CF allele in the Italian population. Journal of Cystic Fibrosis 2007 6, 15-22DOI: (10.1016/j.jcf.2006.04.003) Copyright © 2006 European Cystic Fibrosis Society Terms and Conditions

Fig. 3 The partition of the risk of being an ‘at risk couple’ among the 6 possible M/V couples in the Italian population. Journal of Cystic Fibrosis 2007 6, 15-22DOI: (10.1016/j.jcf.2006.04.003) Copyright © 2006 European Cystic Fibrosis Society Terms and Conditions