Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis
Open Access
- 28 October 1993
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 329 (18) , 1308-1313
- https://doi.org/10.1056/nejm199310283291804
Abstract
Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Seventy-two percent of patients with this disease are homozygotes or compound heterozygotes for eight mutations of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7: δF508, G542X, R553X, W1282X, N1303K, 621+1G-to-T, 1717-1G-to-A, and R117H. We studied the relation between genotype and phenotype in patients from 14 countries.Keywords
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