A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male
✍ Scribed by Rita Padoan; Diana Costantini; Maria Chiara Russo; Antonella Ambrosioni; Sabrina Fiori; Silvia Prandoni; Angelo Cantù-Rajnoldi; Manuela Seia; Annamaria Giunta
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 11 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
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📜 SIMILAR VOLUMES
A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis
## 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