Article
Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.
Human mutation - 1 Jan 1995
Verlingue C, Kapranov N I, Mercier B, Ginter E K, Petrova N V, Audrezet M P, Férec C
Abstract excerpt
To date, a large number of mutations causing the disease, cystic fibrosis, have been reported worldwide. Having analysed the coding sequence of a sample of cystic fibrosis (CF) patients from Russia, we have identified three novel CF mutations. Two of them, 175 del C in exon 1 and 624 del T in exo...
Topics
- Alleles
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Female
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Russia
- Sequence Analysis, DNA