2. Academic Validation
  3. Genetic mechanisms of surfactant deficiency

Genetic mechanisms of surfactant deficiency

  • Biol Neonate. 2004;85(4):314-8. doi: 10.1159/000078171.
Lawrence M Nogee 1
Affiliations

Affiliation

  • 1 Department of Pediatrics, Division of Neonatology, Johns Hopkins University School of Medicine, Baltimore, MD 21287-3200, USA. lnoggee@jhmi.edu
PMID: 15218289 DOI: 10.1159/000078171
Abstract

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 understanding of normal surfactant metabolism, are reviewed.

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