Article
Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
Journal of medical genetics - 1 Aug 1992
Gasparini P, Borgo G, Mastella G, Bonizzato A, Dognini M, Pignatti P F
Abstract excerpt
The clinical course of nine cystic fibrosis patients homozygous for the CF gene nonsense mutation R1162X was investigated. Since this mutation should lead to an interruption in the synthesis of the cystic fibrosis transmembrane regulator (CFTR) protein, a severe clinical course was expected. All patients showed pancreatic insufficiency, while the course of the lung disease was mild to moderate. These results...
Topics
- Adenosine Triphosphate
- Adolescent
- Adult
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Homozygote
- Humans
- Lung Diseases