Article
A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.
Human genetics - 1 Nov 1992
Dörk T, Kälin N, Stuhrmann M, Schmidtke J, Tümmler B
Abstract excerpt
German patients with cystic fibrosis (CF) were screened for molecular lesions in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by single strand conformation polymorphism (SSCP) and chemical cleavage of mismatch analyses. Direct sequencing of four samples that disp...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Female
- Heterozygote
- Humans
- Infant
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Polymorphism, Restriction Fragment Length
- Terminator Regions, Genetic