302 Patients with cystic fibrosis have antigliadin antibodies without having celiac disease

Cystic fibrosis patients with the 3272-2

Cystic fibrosis patients with the 3272-26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

✍ Sebastian Beck; Deborah Penque; Susana Garcia; Anita Gomes; Carlos Farinha; Luci 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 755 KB

We characterized the 3272-26A-->G mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, creating an alternative acceptor splice site in intron 17a, that competes with the normal one, although we predict from consensus values, with lower efficiency. We analyzed five Cystic