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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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha: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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