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The classification of ATP‐binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system
IMPORTANCE: The ATP‐binding cassette subfamily A member 3 (ABCA3) protein plays a vital role in surfactant homeostasis. Mutations in the ABCA3 gene lead to the development of interstitial lung disease. In the most severe manifestation, mutations can lead to a fatal respiratory distress syndrome in n...
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| Pubblicato in: | Pediatr Investig |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7331442/ https://ncbi.nlm.nih.gov/pubmed/32851225 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ped4.12020 |
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