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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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| Publicado no: | Hum Mutat |
|---|---|
| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | 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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