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Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate
The authors report, for the first time in the literature, a case of respiratory distress syndrome in a term baby due to homozygosity for a p.Trp308Arg/W308R substitution in the ATP-binding cassette transporter 3. The sequence was confirmed by genetic analysis of the baby and both parents. Management...
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| Hauptverfasser: | , , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Publishing Group
2011
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3063289/ https://ncbi.nlm.nih.gov/pubmed/22707629 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.10.2010.3427 |
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