Biologic Characterization of ABCA3 Variants in Lung Tissue from Infants and Children with ABCA3 Deficiency.
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DOI: 10.1002/ppul.25862
Abstract: ABCA3 is a phospholipid transporter protein required for surfactant assembly in lamellar bodies of alveolar type II cells. Biallelic pathogenic ABCA3 variants cause severe neonatal respiratory distress syndrome or childhood interstitial lung disease. However, ABCA3… read more here.
Keywords: children abca3; biologic characterization; abca3; lung tissue ... See more keywords