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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Pubblicato in:Am J Respir Cell Mol Biol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Thoracic Society 2016
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Original Research
Accesso online: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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