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Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations

✍ Scribed by Satu Kinnunen; Sandra Bonache; Teresa Casals; Sanni Monto; Erkki Savilahti; Juha Kere; Irma Järvelä


Book ID
119288437
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
172 KB
Volume
4
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