Article
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.
European journal of human genetics : EJHG - 1 Aug 2015
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, Ullmann Nicola, Ullman Nicola, Cogo Paola, Cutrera Renato, Danhaive Olivier
Abstract excerpt
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 objective was to characterize the cellular/ultrastructural correlates of surfactant protein C (SP-C) mutations in...
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