Article
The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).
The New England journal of medicine - 29 Nov 1990
Kerem E, Corey M, Kerem B S, Rommens J, Markiewicz D, Levison H, Tsui L C, Durie P
Abstract excerpt
BACKGROUND AND METHODS: Both the clinical manifestations of cystic fibrosis and the genotypes of patients are heterogeneous, but the associations between the two are not known. We therefore studied blood samples from 293 patients with cystic fibrosis for the presence of the most common disease-causing mutation (delta F508) on chromosome 7 and compared the results with the clinical manifestations of the disease....
Topics
- Adolescent
- Adult
- Alleles
- Child
- Child, Preschool
- Chlorides
- Chromosomes, Human, Pair 7
- Cystic Fibrosis
- Genotype
- Growth
- Heterozygote