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Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 +1 G→A

✍ Scribed by Bernard Mercier; Marie-Pierre Audreézet; Jean Feigelson; François Douchain; Odile Raguénès; Claudine Verlingue; Isabelle Quéré; Claude Férec


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
200 KB
Volume
4
Category
Article
ISSN
1059-7794

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✍ J.J. Tellería; M.J. Alonso; C. Calvo; M. Alonso; A. Blanco 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 1 views

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