Article
Surfactant composition and function in patients with ABCA3 mutations.
Pediatric research - 1 Jun 2006
Garmany Tami H, Moxley Michael A, White Frances V, Dean Michael, Hull William M, Whitsett Jeffrey A, Nogee Lawrence M, Hamvas Aaron
Abstract excerpt
Mutations in the gene encoding the ATP binding cassette transporter member A3 (ABCA3) are associated with fatal surfactant deficiency. ABCA3 lines the limiting membrane of lamellar bodies within alveolar type-II cells, suggesting a role in surfactant metabolism. The objective of this study was to determine the surfactant phospholipid composition and function in patients with mutations in the ABCA3 gene....
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