Protection against bronchial asthma by CFTR ΔF508 mutation: A heterozygote advantage in cystic fibrosis

Cystic fibrosis patients with mutation 1

Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes

✍ V. Nunes; T. Casals; A. Gaona; G. Antiñolo; J. Ferrer-Calvete; J. Pérez-Frias; E 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 437 KB

The majority of the identified cystic fibrosis (CF) mutations are very uncommon in the total patient population, making the correlation between the clinical presentation and the molecular alterations difficult. The largest deletion that has been described so far in C F is of 84 bp in exon 13, which