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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Enregistré dans:
Détails bibliographiques
Publié dans:Am J Respir Cell Mol Biol
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: American Thoracic Society 2016
Sujets:
Original Research
Accès en ligne: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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