Article
Genetic disorders of surfactant proteins.
Neonatology - 1 Jan 2007
Hamvas Aaron, Cole F Sessions, Nogee Lawrence M
Abstract excerpt
Inherited disorders of pulmonary surfactant-associated proteins are rare but provide important insights into unique mechanisms of surfactant dysfunction. Recessive loss-of-function mutations in the surfactant protein-B and the ATP-binding cassette family member A3 (ABCA3) genes present as lethal surfactant deficiency in the newborn, whereas other recessive mutations in ABCA3 and dominant mutations in the...
Topics
- ATP-Binding Cassette Transporters
- Humans
- Infant, Newborn
- Lung
- Lung Diseases
- Lung Transplantation
- Metabolism, Inborn Errors
- Mutation
- Pulmonary Surfactant-Associated Protein C
- Pulmonary Surfactant-Associated Proteins
- Respiratory Distress Syndrome, Newborn