Article
[Detection of frequent mutations of the CFTR gene in cystic fibrosis patients from Central Russia].
Genetika - 1 Jan 1997
Petrova N V, Kapranov N I, Ginter E K
Abstract excerpt
About 100 patients with cystic fibrosis (CF) from the European part of Russia were screened for mutations 2143delT, 2184insA, S1196X, 3732delA, and W1282X. The patients had one or two mutations (other than delta F508) in CF chromosomes. The frequency of these mutations were estimated in CF chromosomes without the delta F508 mutation. The frequencies of mutations 2143delT, 2184insA, S1196X, and W1282X were 2.9,...
Topics
- Alleles
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Genetic Linkage
- Genetic Testing
- Humans
- Introns
- Mutation
- Repetitive Sequences, Nucleic Acid
- Russia