Article
Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
Human genetics - 1 Nov 1994
Dörk T, Mekus F, Schmidt K, Bosshammer J, Fislage R, Heuer T, Dziadek V, Neumann T, Kälin N, Wulbrand U
Abstract excerpt
We have conducted a comprehensive study of the molecular basis of cystic fibrosis (CF) in 350 German CF patients. A screening approach based on single-strand conformation analysis and direct sequencing of genomic polymerase chain reaction products has allowed us to detect the molecular defects on...
Topics
- Adult
- Base Sequence
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Female
- Genetic Heterogeneity
- Genetic Testing
- Germany
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Polymorphism, Single-Stranded Conformational