Article
Detection of 100% of the CFTR mutations in 63 CF families from Tyrol.
Clinical genetics - 1 Oct 1997
Stuhrmann M, Dörk T, Frühwirth M, Golla A, Skawran B, Antonin W, Ebhardt M, Loos A, Ellemunter H, Schmidtke J
Abstract excerpt
We identified 100% of the CFTR gene mutations, including three novel mutations, in 126 unrelated cystic fibrosis chromosomes from Tyrol, Austria. The frequency of the major mutation deltaF508 (74.6%) was not significantly different in Tyrolian CF-patients than in patients from Bavaria (71.0%) and...
Topics
- Adolescent
- Adult
- Austria
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Female
- Gene Frequency
- Germany
- Homozygote
- Humans
- Italy
- Male
- Mutation
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Sequence Deletion