Article
Screening of CFTR mutations in an isolated population: identification of carriers and patients.
European journal of human genetics : EJHG - 1 Jan 2000
Chiba-Falek O, Nissim-Rafinia M, Argaman Z, Genem A, Moran I, Kerem E, Kerem B
Abstract excerpt
One important application of the identification of disease-causing mutations is carrier screening in the general population. Such a project requires a simple accurate test by which a large proportion of the mutations can be identified. This study describes screening for CFTR mutations in an isola...
Topics
- Arabs
- Child
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Gene Frequency
- Genetic Carrier Screening
- Genetic Testing
- Humans
- Israel
- Male
- Mutation
- Vas Deferens