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Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report
BACKGROUND: Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Ad...
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| Publicado no: | J Med Case Rep |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5037624/ https://ncbi.nlm.nih.gov/pubmed/27670912 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-1027-z |
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