Article
Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area.
Human genetics - 1 Mar 1993
Casals T, Nunes V, Palacio A, Giménez J, Gaona A, Ibáñez N, Morral N, Estivill X
Abstract excerpt
We have determined the frequency of deletion delta F508 and mutation G542X, a nonsense mutation in exon 11 of the cystic fibrosis (CF) gene, in a sample of 400 Spanish CF families. Mutation G542X represents 8% of the total number of CF mutations in Spain, making it the second most common mutation...
Topics
- Base Sequence
- Cystic Fibrosis
- Haplotypes
- Humans
- Molecular Sequence Data
- Mutation
- Polymorphism, Genetic
- Prevalence
- Spain