Article
Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.
Human genetics - 1 Jan 1997
Tzetis M, Kanavakis E, Antoniadi T, Doudounakis S, Adam G, Kattamis C
Abstract excerpt
To completely characterize the spectrum of mutations in the cystic fibrosis transmembrane conductance regulator gene in Greek cystic fibrosis (CF) patients, we screened 500 CF chromosomes by denaturing gradient gel electrophoresis followed by direct sequencing. We identified 48 mutations, account...
Topics
- Adult
- Alleles
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Primers
- Exons
- Female
- Genotype
- Greece
- Haplotypes
- Humans
- Introns
- Male
- Microsatellite Repeats
- Mutation
- Point Mutation