Article
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.
The Journal of clinical investigation - 1 Dec 1991
Hamosh A, Trapnell B C, Zeitlin P L, Montrose-Rafizadeh C, Rosenstein B J, Crystal R G, Cutting G R
Abstract excerpt
Cystic fibrosis (CF) is the most common, lethal inherited disorder in the Caucasian population. We have recently reported two African-American patients with nonsense mutations in each CF gene and severe pancreatic disease, but mild pulmonary disease. In order to examine the effect of these nonsen...
Topics
- Adolescent
- Adult
- Base Sequence
- Bronchi
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Nasal Mucosa
- RNA, Messenger