Article
[Indirect genetic diagnosis of cystic fibrosis].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke - 28 Feb 1994
Boman H, Eiken H G, Fluge G
Abstract excerpt
The diagnosis cystic fibrosis was made in a three years old girl. Her older brother and her mother's sister both had minor symptoms and signs suggestive of this disease. None of 17 mutations in the gene locus for cystic fibrosis was identified in the patient by DNA-analyses. By haplotype analyses...
Topics
- Child, Preschool
- Cystic Fibrosis
- Female
- Genetic Markers
- Genetic Techniques
- Haplotypes
- Humans
- Male
- Mutation