Article
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.
Human mutation - 1 Jan 1992
Cremonesi L, Ferrari M, Belloni E, Magnani C, Seia M, Ronchetto P, Rady M, Russo M P, Romeo G, Devoto M
Abstract excerpt
The delta 508 mutation accounts for about 53% of the molecular defects causing cystic fibrosis (CF) in Italy. The numerous additional mutations detected so far are all relatively rare, and about 30% of CF chromosomes carries unknown mutations in our patients. In order to identify the non-delta F5...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Humans
- Italy
- Membrane Proteins
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Sequence Deletion