Article
Study of 12 mutations in Turkish cystic fibrosis patients.
Human heredity - 1 Jan 2000
Yilmaz E, Erdem H, Ozgüç M, Coşkun T, Ozçelik U, Göçmen A, Ozalp I
Abstract excerpt
67 unrelated cystic fibrosis (CF) patients were screened for some of the most common mutations of the CFTR gene. This analysis resulted in the identification of 34.6% of all CF alleles. The most common mutation is delta F508 (28.4%). Two other mutations account for a further 6.7% of the alleles (...
Topics
- Adolescent
- Alleles
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Exons
- Humans
- Membrane Proteins
- Mutation
- Polymorphism, Restriction Fragment Length
- Turkey