Article
Spectrum of CFTR mutations in Argentine cystic fibrosis patients.
Clinical genetics - 1 Jan 1997
Chertkoff L, Visich A, Bienvenu T, Grenoville M, Segal E, Carniglia L, Kaplan J C, Barreiro C
Abstract excerpt
The identification of different mutations which cause cystic fibrosis (CF) in Argentine patients has been performed. Initially, 10 of the most commonly mutated loci in 228 independent chromosomes were analyzed. Each allele was detected by PCR amplification of DNA samples either directly on polyac...
Topics
- Argentina
- Child
- Chromosomes, Human
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Electrophoresis
- Gene Frequency
- Genetics, Population
- Homozygote
- Humans
- Lung Diseases
- Mutation
- Pancreas
- Polymerase Chain Reaction