Article
[Specific gene deletion in patients with cystic fibrosis: pilot study of a small patient cohort].
Padiatrie und Grenzgebiete - 1 Jan 1991
Scheurlen W, Jeschke R, Kreth H W
Abstract excerpt
Identification and molecular cloning of the cystic fibrosis (CF)-gene was a major progress in genetic counseling of families with one or more affected children. In caucasian families about 70% of the CF-patients show a homozygous or heterozygous deletion of one amino acid, that is phenylalanine a...
Topics
- Adolescent
- Alleles
- Child
- Child, Preschool
- Chromosome Deletion
- Cystic Fibrosis
- Gene Amplification
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Nucleic Acid Hybridization
- Pilot Projects