A Cystic Fibrosis Mutation Associated with Mild Lung Disease
Open Access
- 13 July 1995
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 333 (2), 95-99
- https://doi.org/10.1056/nejm199507133330204
Abstract
Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Among Dutch patients with cystic fibrosis, ΔF508 is the most common mutation and A455E the second most common mutation of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7. A455E is associated with preserved pancreatic function and residual secretion of chloride across membranes. We investigated whether it is also associated with less severe pulmonary disease in patients with cystic fibrosis.Keywords
This publication has 30 references indexed in Scilit:
- Correlation between Genotype and Phenotype in Patients with Cystic FibrosisNew England Journal of Medicine, 1994
- Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype.JCI Insight, 1994
- Correlation between Genotype and Phenotype in Patients with Cystic FibrosisNew England Journal of Medicine, 1993
- Mutations in CFTR associated with mild-disease-form CI- channels with altered pore propertiesNature, 1993
- Severity of chest disease in cystic fibrosis patients in relation to their genotypes.Journal of Medical Genetics, 1992
- Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutationThe Lancet, 1991
- The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF508)New England Journal of Medicine, 1990
- Identification of the Cystic Fibrosis Gene: Chromosome Walking and JumpingScience, 1989
- Identification of the Cystic Fibrosis Gene: Genetic AnalysisScience, 1989
- Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNAScience, 1989