1. A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice 
Catherine Costa, Virginie Pruliere-Escabasse, Alix de Becdelievre, Christine Gameiro, Lisa Golmard, Caroline Guittard, Laurence Bassinet, Thierry Bienvenu, Marie Des Georges, Ralph Epaud, Eric Bieth, Irina Giurgea, Abdel Aissat, Alexandre Hinzpeter, Bruno Costes, Pascale Fanen, Michel Goossens, Mireille Claustres, André Coste, Emmanuelle Girodon 
Journal of Cystic Fibrosis 
Volume 10, Issue 6, Pages (December 2011)
DOI: /j.jcf
Copyright © 2011 European Cystic Fibrosis Society Terms and Conditions

2. Figure 1
cDNA pattern of the fragment encompassing exons 5 to 9, observed in the patient carrying c _1110delGAAT ( _1110delGAAT), with a 97bp insertion between exon 7 and 8. 1a. HPLC analysis. The patterns (plain lines) are superimposed on normal ones (dotted lines). The homoduplex molecules corresponding to the abnormal transcript are indicated by a plain arrow and heteroduplexes by a dotted arrow. They were characterized as such by sequence analysis of the corresponding fractions. 1b. Acrylamide gel. N: normal control; P: patient.
Journal of Cystic Fibrosis  , DOI: ( /j.jcf )
Copyright © 2011 European Cystic Fibrosis Society Terms and Conditions