Article
[Diagnostic value of the deletion of the delta F508 gene in cystic fibrosis].
Anales espanoles de pediatria - 1 Nov 1991
Fernández García E, Nunes Martínez V, Ibáñez Olias M A, Benítez Ortíz J
Abstract excerpt
We have studied 70 carrier cystic fibrosis (CF) families with delta F508 mutation using the polymerase chain reaction (P.C.R.). We found that frequency of the mutation in CF chromosomes was 53%. 39% of carrier cystic fibrosis families were informative for the mutation.
Topics
- Child
- Chromosome Deletion
- Cystic Fibrosis
- Gene Frequency
- Humans
- Mutation
- Pedigree
- Spain
