Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

Genetic defects of surfactant metabolism are associated with a broad range of clinical manifestations, from neonatal respiratory distress syndrome to adult interstitial lung disease. Early therapies may improve symptoms but diagnosis is often delayed owing to phenotype and genotype variability. Our...

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Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Peca, Donatella, Boldrini, Renata, Johannson, Jan, Shieh, Joseph T, Citti, Arianna, Petrini, Stefania, Salerno, Teresa, Cazzato, Salvatore, Testa, Raffaele, Messina, Francesco, Onofri, Alfredo, Cenacchi, Giovanna, Westermark, Per, Ullman, Nicola, Cogo, Paola, Cutrera, Renato, Danhaive, Olivier
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2015
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795107/
https://ncbi.nlm.nih.gov/pubmed/25782673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.45
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