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Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome

Mutations in the ATP-binding cassette transporter A3 gene (ABCA3) result in severe neonatal respiratory distress syndrome and childhood interstitial lung disease. As most ABCA3 mutations are rare or private, determination of mutation pathogenicity is often based on results from in silico prediction...

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Detalhes bibliográficos
Publicado no:Am J Respir Cell Mol Biol
Main Authors: Wambach, Jennifer A., Yang, Ping, Wegner, Daniel J., Heins, Hillary B., Kaliberova, Lyudmila N., Kaliberov, Sergey A., Curiel, David T., White, Frances V., Hamvas, Aaron, Hackett, Brian P., Cole, F. Sessions
Formato: Artigo
Idioma:Inglês
Publicado em: American Thoracic Society 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5105181/
https://ncbi.nlm.nih.gov/pubmed/27374344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1165/rcmb.2016-0008OC
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