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Published in 2022 at "American Journal of Respiratory Cell and Molecular Biology"
DOI: 10.1165/rcmb.2021-0405ed
Abstract: The ABCA3 (ATP-binding cassette transporter A3) protein transports phospholipids from the cytoplasm into lamellar bodies in alveolar type II cells (AEC2s) and is critical for pulmonary surfactant synthesis and function. Biallelic pathogenic ABCA3 variants cause…
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Keywords:
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