A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of croatian origin
✍ Scribed by Lidija Petreska; Dijana Plašeska; Svetlana Kočeva; Ana Stavljenić-Rukavina; Georgi Dimitar Efremov
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 212 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
A woman with a family history of cystic fibrosis (CF) requested DNA analysis at 4 months of pregnancy. Since her brother died at age of 10 in 1986, it was necessary to perform DGGE screening of CFTR exons on DNA from the 2 parents. An aberrant heteroduplex pattern was observed for exon 10 amplified
## 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