Article
Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients.
Journal of medical genetics - 1 Feb 1998
Verlingue C, Vuillaumier S, Mercier B, Le Gac M, Elion J, Férec C, Denamur E
Abstract excerpt
This study was aimed at testing if a 5.2 kb untranslated region on both sides of the first CFTR exon, shown to contain regulatory elements, could carry mutations responsible for cystic fibrosis (CF) or CF related phenotypes. Selection of the DNA segments studied within this region was based upon...
Topics
- Animals
- Base Sequence
- Bronchiectasis
- Cohort Studies
- Conserved Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA, Single-Stranded
- Electrophoresis, Polyacrylamide Gel
- Exons
- Gene Expression Regulation
- Humans
- Male
- Mammals
- Mice