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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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Publicat a:J Perinatol
Autors principals: Jackson, Tara, Wegner, Daniel J., White, Frances V., Hamvas, Aaron, Cole, F. Sessions, Wambach, Jennifer A.
Format: Artigo
Idioma:Inglês
Publicat: 2015
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Accés en línia: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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