Article
A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.
Respiratory research - 15 Apr 2014
Campo Ilaria, Zorzetto Michele, Mariani Francesca, Kadija Zamir, Morbini Patrizia, Dore Roberto, Kaltenborn Eva, Frixel Sabrina, Zarbock Ralf, Liebisch Gerhard, Hegermann Jan, Wrede Christoph, Griese Matthias, Luisetti Maurizio
Abstract excerpt
BACKGROUND: Interstitial lung disease occurring in children is a condition characterized by high frequency of cases due to genetic aberrations of pulmonary surfactant homeostasis, that are also believed to be responsible of a fraction of familial pulmonary fibrosis. To our knowledge, ABCA3 gene was not previously reported as causative agent of fibrosis affecting both children and adults in the same kindred....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.