Genetics and pulmonary medicine bullet 1: The genetics of cystic fibrosis lung disease
Open Access
- 1 May 1998
- Vol. 53 (5) , 389-397
- https://doi.org/10.1136/thx.53.5.389
Abstract
Cystic fibrosis is the most common lethal autosomal recessive genetic disorder in Caucasian populations with a carrier frequency of one in 25. It affects about one in 2500 live births and has a median life expectancy of 28 years.1Keywords
This publication has 38 references indexed in Scilit:
- Towards an ovine model of cystic fibrosisHuman Molecular Genetics, 1997
- A peptide antibiotic from human skinNature, 1997
- Early alterations in airway mucociliary clearance and inflammation of the lamina propria in CF miceAmerican Journal of Physiology-Cell Physiology, 1997
- A demonstration using mouse models that successful gene therapy for cystic fibrosis requires only partial gene correction.1996
- New pharmaceutical approaches to the treatment of cystic fibrosisNature Medicine, 1996
- Alternate Translation Initiation Codons Can Create Functional Forms of Cystic Fibrosis Transmembrane Conductance RegulatorJournal of Biological Chemistry, 1995
- Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.Journal of Clinical Investigation, 1992
- Defective acidification of intracellular organelles in cystic fibrosisNature, 1991
- Mucociliary transport in trachea of patients with cystic fibrosis.Archives of Disease in Childhood, 1976
- Pathology of cystic fibrosis review of the literature and comparison with 146 autopsied cases.1975