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A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021316/
https://www.ncbi.nlm.nih.gov/pubmed/24730976
http://dx.doi.org/10.1186/1465-9921-15-43