Article
Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.
Molecular and cellular probes - 1 Apr 1995
Férec C, Novelli G, Verlingue C, Quéré I, Dallapiccola B, Audrézet M P, Mercier B
Abstract excerpt
The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation, delta F508, accounts for only about 50% of CF chromosomes, while identification of most of the other mutant alleles has not been achieved. In an ongoing effort to identify these alleles, we have scanned the entire coding...
Topics
- Alleles
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- Chloride Channels
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Humans
- Italy
- Membrane Proteins
- Molecular Sequence Data