Study Supports Link Between Mutation And Severe Lung Disease in Neonates | GenomeWeb

A team of US-based researchers said they have identified a mutation in the ABCA3 gene that may increase the risk of developing a severe lung disease that appears in infants.

The results appear to confirm earlier reports that a mutation in the gene “leads to serious lack” of a surfactant, a chemical that helps prevent lungs from collapsing. Previous studies suggested that mutations in the ABCA3 gene have toxic effects on lung metabolism in infants.

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