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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Detalles Bibliográficos
Autores principales: Denman, Laura, Yonker, Lael M., Kinane, Thomas Bernard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331442/
https://www.ncbi.nlm.nih.gov/pubmed/32851225
http://dx.doi.org/10.1002/ped4.12020

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331442/
https://www.ncbi.nlm.nih.gov/pubmed/32851225
http://dx.doi.org/10.1002/ped4.12020

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