Article
[Detection of the G551D mutation in a patient with nasal polyps].
Casopis lekaru ceskych - 5 Apr 1995
Kuchynková Z, Macek M, Holcát M, Macek M
Abstract excerpt
Atypical forms of cystic fibrosis can be manifested by a mild affection of the airways in adult age. They are the phenotypic manifestation of less frequent mutations for CF. The authors present the case-history of a man who developed the first symptoms of respiratory disease at the age of 16 year...
Topics
- Adult
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Humans
- Male
- Membrane Proteins
- Mutation
- Nasal Polyps
