Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation

BACKGROUND: Monoallelic mutations of the Surfactant Protein C gene (SFTPC) are associated with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for 30 % of all cases reported. CASE PRESENTATION: We describe three patients carrying the same I73T SPC mutation with ve...

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Detalles Bibliográficos
Autores principales: Salerno, Teresa, Peca, Donatella, Menchini, Laura, Schiavino, Alessandra, Boldrini, Renata, Esposito, Fulvio, Danhaive, Olivier, Cutrera, Renato
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772310/
https://www.ncbi.nlm.nih.gov/pubmed/26925580
http://dx.doi.org/10.1186/s13052-016-0235-x

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