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Respiratory Failure in a Term Infant with Cis and Trans Mutations in ABCA3
A full-term female neonate presented with persistent respiratory failure and radiologic studies consistent with surfactant deficiency. Sequencing of the ATP-binding cassette transporter A3 gene (ABCA3) revealed 3 mutations: R280C, V1399M, and Q1589X. The infant underwent bilateral lung transplantati...
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| Pubblicato in: | J Perinatol |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4341920/ https://ncbi.nlm.nih.gov/pubmed/25712598 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jp.2014.236 |
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