The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes a cAMP-activated chloride channel, and in individuals with both alleles of the gene mutated, symptoms of CF disease are manifest. With more than 300 mutations so far described in the gene the profile of mutant alleles in a p
Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations
✍ Scribed by M. Roussey; A. Le Bihannic; V. Scotet; M. P. Audrezet; M. Blayau; M. Dagorne; V. David; E. Deneuville; J. L. Giniès; M. Laurans; V. Moisan-Petit; G. Rault; P. Vigneron; C. Férec
- Book ID
- 106374252
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 203 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0141-8955
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