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Tools to explore ABCA3 mutations causing interstitial lung disease

Wittmann, Thomas ; Schindlbeck, Ulrike ; Höppner, Stefanie ; Kinting, Susanna ; Frixel, Sabrina ; Kröner, Carolin ; Liebisch, Gerhard ; Hegermann, Jan ; Aslanidis, Charalampos ; Brasch, Frank ; Reu, Simone ; Lasch, Peter ; Zarbock, Ralf ; Griese, Matthias


BackgroundInterstitial lung diseases (ILD) comprise disorders of mostly unknown cause. Among the few molecularly defined entities, mutations in the gene encoding the ATP-binding cassette (ABC), subfamily A, member 3 (ABCA3) lipid transporter represent the main cause of inherited surfactant dysfunction disorders, a subgroup of ILD. Whereas many cases are reported, specific methods to functionally ...


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