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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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2020
Konular:
Article
Online Erişim: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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