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Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

The ABCA3 gene encodes a lipid transporter in type II pneumocytes critical for survival and normal respiratory function. The frequent ABCA3 variant R288K increases the risk for neonatal respiratory distress syndrome among term and late preterm neonates, but its role in children’s interstitial lung d...

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Pubblicato in:Mol Med
Autori principali: Wittmann, Thomas, Frixel, Sabrina, Höppner, Stefanie, Schindlbeck, Ulrike, Schams, Andrea, Kappler, Matthias, Hegermann, Jan, Wrede, Christoph, Liebisch, Gerhard, Vierzig, Anne, Zacharasiewicz, Angela, Kopp, Matthias Volkmar, Poets, Christian F, Baden, Winfried, Hartl, Dominik, van Kaam, Anton H, Lohse, Peter, Aslanidis, Charalampos, Zarbock, Ralf, Griese, Matthias
Natura: Artigo
Lingua:Inglês
Pubblicazione: Feinstein Institute for Medical Research 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5004714/
https://ncbi.nlm.nih.gov/pubmed/26928390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2015.00244
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