Article
[Direct diagnosis of predominant mutation delta F508 associated with the mucoviscidosis gene].
Archives francaises de pediatrie - 1 Jan 2000
Férec C, Guillermit H, Verlingue C, Parent P, Puissant H, Jehanne M, Saleun J P
Abstract excerpt
The cystic fibrosis locus was mapped on the long arm of the chromosome 7 in 1985. It has recently been cloned and a three base pair deletion has been recognized as the mutation associated with the majority of CF chromosomes (delta F508). CF haplotypes previously defined with tightly associated DN...
Topics
- Adult
- Child
- Cystic Fibrosis
- DNA Mutational Analysis
- Genetic Counseling
- Genetic Testing
- Haplotypes
- Humans
- Mutation
- Prenatal Diagnosis