Article
Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.
European journal of human genetics : EJHG - 1 Jan 1996
Messaoud T, Verlingue C, Denamur E, Pascaud O, Quéré I, Fattoum S, Elion J, Férec C
Abstract excerpt
Cystic fibrosis (CF), the most common lethal genetic disease in the Caucasian population, is caused by mutations in the CF transmembrane conductance regulator gene (CFTR). More than 500 molecular defects have been reported to date. The distribution of these mutations is both heterogeneous and pop...
Topics
- Alleles
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Primers
- Electrophoresis, Polyacrylamide Gel
- Genetic Testing
- Genotype
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Sequence Deletion
- Tunisia