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Lung disease caused byABCA3mutations

Kröner, Carolin ; Wittmann, Thomas ; Reu, Simone ; Teusch, Veronika ; Klemme, Mathias ; Rauch, Daniela ; Hengst, Meike ; Kappler, Matthias ; Cobanoglu, Nazan ; Sismanlar, Tugba ; Aslan, Ayse T. ; Campo, Ilaria ; Proesmans, Marijke ; Schaible, Thomas ; Terheggen-Lagro, Susanne ; Regamey, Nicolas ; Eber, Ernst ; Seidenberg, Jürgen ; Schwerk, Nicolaus ; Aslanidis, Charalampos ; Lohse, Peter ; Brasch, Frank ; Zarbock, Ralf ; Griese, Matthias



Abstract

Background Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort. Methods We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015. ...

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