Article
[Analysis of five mutations of cystic fibrosis occurring in the Hungarian population].
Orvosi hetilap - 28 Apr 1996
Németh K, Holics K, Ujhelyi R, Váradi A, Fekete G
Abstract excerpt
The authors screened 374 patients clinically diagnosed be affected by cystic fibrosis. Mutations delta F508, G542X, G551D, R553X, N1303K were analysed to obtain genetic diagnosis. The large number of patients involved in this study allowed for authors to present precise data of the frequencies of...
Topics
- Adult
- Amniocentesis
- Child
- Chorionic Villi Sampling
- Cystic Fibrosis
- Female
- Genetics, Population
- Humans
- Hungary
- Male
- Mass Screening
- Mutation
- Pregnancy
- Prenatal Diagnosis
