Article
Molecular genetic analysis of Turkish cystic fibrosis patients.
Annales de genetique - 1 Jan 1993
Köprübasi F F, Malik N, Bösch-al-Jadooa N, Alkan M, Tanac R, Bühler E
Abstract excerpt
The cystic fibrosis (CF) gene was recently cloned and a three basepair deletion removing phenylalanine 508 from the coding region was identified as the mutation on the majority of cystic fibrosis chromosomes. The frequency of this mutation varies among different geographic locations. In this study we analysed 25 Turkish families and have found the relative frequency of the delta F508 (DF508) mutation to be...
Topics
- Alleles
- Base Sequence
- Chromosomes, Human, Pair 7
- Cystic Fibrosis
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymorphism, Genetic
- Sequence Analysis, DNA