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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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✍ 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