Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and ΔM1140
✍ Scribed by Christine Clavel; François Pennaforte; Frédérique Pigeon; Claudine Verlingue; Philippe Birembaut; Claude Férec
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 98 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1059-7794
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A novel nonsense mutation, S434X,
## MUTATION NOTES nucleotides downstream the original splice site in intron 3. Assuming that this would be used in the patient as donor splice site, the inclusion of 4 intronic nucleotides, frameshift, and thereby an immediate termination of translation would occur, most likely resulting in a null
We analysed DNA samples from 26 Pakistani patients with cystic fibrosis (CF) living in the United Kingdom (14 from patients residing in the north west of England, who were referred directly to the North West Regional Molecular Genetics Laboratory, and 12 from other regional molecular genetics labora