Functional Characterization of 4 ATP-Binding Cassette Transporter A3 Gene (ABCA3) Variants

ABCA3 transports phospholipids across lamellar body membranes in pulmonary alveolar type II cells and is required for surfactant assembly. Rare, biallelic, pathogenic ABCA3 variants result in lethal neonatal respiratory distress syndrome and childhood interstitial lung disease. Qualitative functiona...

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Bibliografiske detaljer
Udgivet i:Hum Mutat
Main Authors: Hu, June Y., Yang, Ping, Wegner, Daniel J., Heins, Hillary B., Luke, Cliff J., Li, Fuhai, White, Frances V., Silverman, Gary A., Cole, F. Sessions, Wambach, Jennifer A.
Format: Artigo
Sprog:Inglês
Udgivet: 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7292786/
https://ncbi.nlm.nih.gov/pubmed/32196812
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24014
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