Article
Mutation analysis in the diagnosis of cystic fibrosis.
European journal of pediatrics - 1 Nov 1993
Deufel T, Rabe H, Wieser T, Meitinger T, Rosenecker J, Bertele-Harms R, Harms K, Hadorn H B, Roscher A A
Abstract excerpt
Since the characterization of the gene encoding the cystic fibrosis transmembrane conductance regulator protein and identification of its main mutation, delta F508, causing cystic fibrosis (CF), more than 150 mutations in this gene have been reported, most of them only in a few or even single CF...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Cystic Fibrosis
- DNA Mutational Analysis
- Female
- Genotype
- Humans
- Male
- Polymerase Chain Reaction