Article
[Cystic fibrosis in Asturias: an elevated frequency of the delta F508 mutation].
Medicina clinica - 26 Nov 1994
Coto E, Bousoño C, Menéndez M J, Cue R, Toral J F, Benavides A, Hernando I, Plasencia A, López-Larrea C
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) is the most common autosomic-recessive inherited disorder. More than 300 different mutations in the CF gene (CFTR) have been described, being delta F508 and G542X the most common in the Spanish population. The frequencies of these mutations vary between the differ...
Topics
- Adolescent
- Base Sequence
- Child
- Child, Preschool
- Cystic Fibrosis
- Electrophoresis, Polyacrylamide Gel
- Gene Frequency
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Spain