Optimizing strategies for CFTR molecular testing

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Presentation transcript:

Optimizing strategies for CFTR molecular testing Javier Gimenez, Maria D. Ramos, Teresa Casals Journal of Cystic Fibrosis Volume 10, Issue 2, Pages 143-144 (March 2011) DOI: 10.1016/j.jcf.2010.11.002 Copyright © 2010 European Cystic Fibrosis Society. Terms and Conditions

Fig. 1 Direct analysis of three CF-causing mutations in exon 10. PCR primers: C16B, 5′-GTT TTC CTG GAT TAT GCC TGG CAC-3′; C16D, 5′-GTT GGC ATG CTT TGA TGA CGC TTC-3′ [4]. WT, wild type; NTC, no template control; HT, heteroduplex; PAGE, polyacrylamide gel electrophoresis. Samples: 1, p.Phe508del/p.Phe508del; 2, p.Phe508del/c.1545_1546delTA (1677delTA); 3, p.Ile507del/p.Ile507del; 4, c.1545_1546delTA/wt; 5, p.Phe508del/p.Ile507del; 6, p.Ile507del/c.1545_1546delTA; 7, p.Phe508del/wt; and 8, p.Ile507del/wt. Journal of Cystic Fibrosis 2011 10, 143-144DOI: (10.1016/j.jcf.2010.11.002) Copyright © 2010 European Cystic Fibrosis Society. Terms and Conditions