Article
Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.
Human genetics - 1 Jan 1994
Dörk T, Fislage R, Neumann T, Wulf B, Tümmler B
Abstract excerpt
The alternatively spliced exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene codes for the initial part of the amino-terminal nucleotide-binding fold of CFTR. A unique feature of the acceptor splice site preceding this exon is a variable length polymorphism within the p...
Topics
- Alleles
- Alternative Splicing
- Base Sequence
- Chloride Channels
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Exons
- Germany
- Haplotypes
- Humans
- Linkage Disequilibrium
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction