Article
[Direct genetic diagnosis in cystic fibrosis].
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde - 1 Aug 1990
Reiss J, Schlösser M, Wagner M, Lenz U, Krawczak M, Ammann G, Klösser S, Böwing B
Abstract excerpt
The recent cloning of the cystic fibrosis gene and the simultaneous identification of the predominant mutation enabled direct gene diagnosis in the majority of all CF families. We demonstrate the superiority of now available direct genotyping in five individual cases.
Topics
- Adult
- Child, Preschool
- Cystic Fibrosis
- DNA Probes
- Female
- Genetic Carrier Screening
- Genetic Markers
- Genotype
- Haplotypes
- Humans
- Infant, Newborn
- Male
- Pregnancy