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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...
Autores principales: | Cho, Jin‐Gun, Thakkar, Devesh, Buchanan, Peter, Graf, Nicole, Wheatley, John |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Ltd
2020
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Materias: | |
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 |
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