An intronic ABCA3 mutation responsible for respiratory disease

BACKGROUND: Member A3 of the ATP-Binding Cassette family of transporters (ABCA3) is essential for surfactant metabolism. Nonsense, missense, frameshift and splice-site mutations in the ABCA3 gene (ABCA3) have been reported as causes of neonatal respiratory failure (NRF) and interstitial lung disease...

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Hlavní autoři: Agrawal, Amit, Hamvas, Aaron, Cole, F. Sessions, Wambach, Jennifer, Wegner, Daniel, Coghill, Carl, Harrison, Keith, Nogee, Lawrence M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3607324/
https://ncbi.nlm.nih.gov/pubmed/22337229
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/pr.2012.21
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