Article
Two cystic fibrosis patients with the genotype G542X/G551D.
Human genetics - 1 Mar 1993
Reiss J, Ellermeyer U, Schloesser M, Fuhrmann W, Drews D, Posselt H G
Abstract excerpt
Two adult sisters affected by cystic fibrosis were both shown to carry two different alterations within exon 11 of the CFTR gene, the nonsense mutation G542X and the missense mutation G551D. Both patients exhibit a relatively benign clinical course. In the described patients, G542X functions as a...
Topics
- Adult
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Female
- Genotype
- Humans
- Membrane Proteins
- Phenotype
- Sequence Analysis