The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF508)
Open Access
- 29 November 1990
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 323 (22) , 1517-1522
- https://doi.org/10.1056/nejm199011293232203
Abstract
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 (ΔF508) on chromosome 7 and compared the results with the clinical manifestations of the disease.This publication has 23 references indexed in Scilit:
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