𝔖 Bobbio Scriptorium
✦   LIBER   ✦

12 Rapid and reliable analysis of the CFTR locus in CBAVD patients

✍ Scribed by M. des Georges; C. Guittard; J.P. Altiéri; C. Templin; C. Bareil; M. Claustres


Book ID
118640642
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
132 KB
Volume
5
Category
Article
ISSN
1569-1993

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A novel missense mutation in exon 16 of
✍ Thierry Bienvenu; Dominique Hubert; Eric Setbon; Daniel Dusser; Jean-Claude Kapl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB 👁 2 views

## 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