Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-delta F508 mutations in German cystic fibrosis patients.

Abstract excerpt

In Central Europe, the delta F508 deletion accounts for approximately 75% of mutations in the cystic fibrosis transmembrane conductance regulator gene causing cystic fibrosis. The remainder comprise a large number of individually infrequent mutations whose detection requires a disproportionately...

Topics

• Base Sequence
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Exons
• Genotype
• Germany
• Humans
• Membrane Proteins
• Molecular Sequence Data
• Mutation
• Nucleic Acid Conformation