ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease

Paediatric disorders of pulmonary surfactant may occur due to mutations involving surfactant proteins B and C, and ATP‐binding cassette subfamily A member 3 (ABCA3) genes. Recessive frameshift or nonsense ABCA3 mutations are associated with respiratory failure and neonatal death but milder phenotype...

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Detalles Bibliográficos
Autores principales: Cho, Jin‐Gun, Thakkar, Devesh, Buchanan, Peter, Graf, Nicole, Wheatley, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7412949/
https://www.ncbi.nlm.nih.gov/pubmed/32782805
http://dx.doi.org/10.1002/rcr2.633

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7412949/
https://www.ncbi.nlm.nih.gov/pubmed/32782805
http://dx.doi.org/10.1002/rcr2.633

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