Article
A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.
The Journal of clinical investigation - 1 Apr 1994
Will K, Dörk T, Stuhrmann M, Meitinger T, Bertele-Harms R, Tümmler B, Schmidtke J
Abstract excerpt
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report on a novel nonsense mutation that leads to exon skipping and the activation of a cryptic exon. Screening of genomic DNA from 700 German patients with CF uncovered four cas...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Female
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Nasal Mucosa