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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 and Griese, Matthias (2016) Lung disease caused byABCA3mutations. Thorax 72 (3), pp. 213-220.

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Other URL: http://doi.org/10.1136/thoraxjnl-2016-208649


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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Item type:Article
Date:2016
Institutions:Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin
Identification Number:
ValueType
10.1136/thoraxjnl-2016-208649DOI
Keywords:RESPIRATORY-FAILURE; PULMONARY-FIBROSIS; GENE-MUTATIONS; 2 SIBLINGS; DEFICIENCY; CHILDREN; TRANSPORTER; SUPERFAMILY; GENOTYPE; INFANTS;
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:38667
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