Article
394delTT: a Nordic cystic fibrosis mutation.
Human genetics - 1 Feb 1994
Schwartz M, Anvret M, Claustres M, Eiken H G, Eiklid K, Schaedel C, Stolpe L, Tranebjaerg L
Abstract excerpt
In a systematic screening for mutations in the gene encoding the cystic fibrosis transmembrane regulator among Danish cystic fibrosis (CF) patients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened for 394delTT in Sweden and Norway, where it turned out to be the second most frequent mutation, accounting for 4% of all CF mutations. It...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- DNA Primers
- Electrophoresis, Polyacrylamide Gel
- Exons
- Gene Frequency
- Humans
- Ion Channels
- Membrane Proteins