Article
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
Human heredity - 1 Jan 2000
Audrézet M P, Novelli G, Mercier B, Sangiuolo F, Maceratesi P, Férec C, Dallapiccola B
Abstract excerpt
An analysis of 274 non-delta F508 Italian cystic fibrosis chromosomes was carried out to determine their molecular defect. In a first step, the delta F508 and 59 other mutations were detected by polyacrylamide gel electrophoresis, restriction digestion, and the amplification refractory mutation s...
Topics
- Cystic Fibrosis
- Humans
- Italy
- Mutation
