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7 Mutation analysis of CFTR gene in a region of North of France: uncommon and novel mutations

✍ Scribed by G.-A.L. Loeuille; G. Lalau; N. Wizla; A. Boldron; F. Delepoulle; E. Leroy; M. Scalbert; V. Desfachelles

Book ID
118642928
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
45 KB
Volume
10
Category
Article
ISSN
1569-1993

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We have analyzed 39 unrelated cystic fibrosis (CF) families by denaturing gradient gel electrophoresis (DGGE) and direct sequencing in order to determine the spectrum of CF mutations in our population. This approach has allowed us to detect 72 out of the 78 CF chromosomes (92.3%). The DF508 mutation