Article
Characteristics of disorders associated with genetic mutations of surfactant protein C.
Archives of disease in childhood - 1 Jun 2010
Thouvenin Guillaume, Abou Taam Rola, Flamein Florence, Guillot Loïc, Le Bourgeois Muriel, Reix Philippe, Fayon Mickael, Counil François, Depontbriand Ulrika, Feldmann Delphine, Pointe Hubert Ducou-Le, de Blic Jacques, Clement Annick, Epaud Ralph
Abstract excerpt
STUDY OBJECTIVES: To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation. PATIENTS: Twenty-two children with chronic lung disease associated with SFTPC mutation in a heterozygous form. RESULTS: Mutations located in the BRICHOS domain ('BRICHOS domain' group) were identified in six children, whereas 16...
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