Article
Lung disease caused by ABCA3 mutations.
Thorax - 1 Mar 2017
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 excerpt
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. RESULTS: Of 22...
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