Article
A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.
The Journal of clinical investigation - 1 Apr 1994
Nogee L M, Garnier G, Dietz H C, Singer L, Murphy A M, deMello D E, Colten H R
Abstract excerpt
To determine the molecular defect accounting for the deficiency of pulmonary surfactant protein B (SP-B) in full-term neonates who died from respiratory failure associated with alveolar proteinosis, the sequence of the SP-B transcript in affected infants was ascertained. A frameshift mutation con...
Topics
- Amino Acid Sequence
- Base Sequence
- Humans
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Proteolipids
- Pulmonary Alveolar Proteinosis
- Pulmonary Surfactants
- RNA Splicing
- Respiratory Distress Syndrome, Newborn