Article
Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency.
The Journal of pediatrics - 1 Jul 1994
deMello D E, Nogee L M, Heyman S, Krous H F, Hussain M, Merritt T A, Hsueh W, Haas J E, Heidelberger K, Schumacher R
Abstract excerpt
Congenital alveolar proteinosis (CAP) is an often fatal cause of respiratory failure in term newborn infants, which has been associated with a genetic deficiency of surfactant protein B (SP-B) as a result of a frameshift mutation (121ins2) in a family with three affected siblings. In the index ca...
Topics
- Female
- Frameshift Mutation
- Gene Expression
- Genotype
- Humans
- Infant
- Infant, Newborn
- Lung
- Male
- Phenotype
- Proteolipids
- Pulmonary Alveolar Proteinosis
- Pulmonary Surfactant-Associated Proteins
- Pulmonary Surfactants