Article
DNA diagnosis of cystic fibrosis by direct detection of the delta F508 mutation.
Acta clinica Belgica - 1 Jan 1991
Hendrickx J, Wauters J, Coucke P, Vits L, Van der Auwera B, Willems P J
Abstract excerpt
Cystic fibrosis (CF) is one of the most frequent recessive disorders among Caucasians. DNA analysis is performed by linkage analysis with DNA markers tightly linked to the CF gene. Cloning and sequencing of the cystic fibrosis gene, however, revealed that the major disease mutation is a phenylala...
Topics
- Cystic Fibrosis
- DNA
- Electrophoresis, Polyacrylamide Gel
- Humans
- Mutation
- Polymerase Chain Reaction
