Article
[Cystic fibrosis: the CFTR gene, its mutations, the genetic counseling].
Revue de pneumologie clinique - 1 Jan 1995
Goossens M, Ghanem N, Girodon E, Costes B, Fanen P
Abstract excerpt
Cystic fibrosis is the most frequent autosomic recessively inherited disease in the European population. The gene implicated in this disease was cloned in 1989 but the consequences of the biochemical defect in the cell have not been fully elucidated. To date, 500 mutations of this 230 kilobase gene have been identified. These molecular anomalies each have an effect on the encoded protein (CFTR) an ion channel...
Topics
- Chromosome Mapping
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Genetic Counseling
- Genotype
- Heterozygote
- Humans
- Mutation
- Phenotype
- Pregnancy