Article
Tools to explore ABCA3 mutations causing interstitial lung disease.
Pediatric pulmonology - 1 Dec 2016
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
Abstract excerpt
BACKGROUND: Interstitial 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 define such...
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