Article
Genetic mechanisms of surfactant deficiency.
Biology of the neonate - 1 Jan 2004
Nogee Lawrence M
Abstract excerpt
The production of pulmonary surfactant is necessary to maintain alveolar stability and normal lung function. Mutations in three different genes important for surfactant production and function have now been recognized to result in surfactant deficiency and acute and/or chronic lung disease. The clinical and laboratory features associated with these genetic disorders, along with their implications for the...
Topics
- ATP-Binding Cassette Transporters
- Humans
- Infant, Newborn
- Lung Diseases
- Mutation
- Pulmonary Surfactant-Associated Protein B
- Pulmonary Surfactant-Associated Protein C
- Pulmonary Surfactant-Associated Proteins
- Pulmonary Surfactants
- Respiratory Distress Syndrome, Newborn