Article
The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients.
Human genetics - 1 May 1992
Nemeti M, Johnson J P, Papp Z, Louie E
Abstract excerpt
Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the major mutation (delta F508) in the Hungarian population is 64%. To identify other common mutations in CF families from...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Gene Frequency
- Humans
- Hungary
- Introns
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Prenatal Diagnosis