Article
New surfactant protein C gene mutations associated with diffuse lung disease.
Journal of medical genetics - 1 Jul 2009
Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, Counil F, de Blic J, Taam R A, Le Bourgeois M, Reix P, Flamein F, Clement A, Feldmann D
Abstract excerpt
BACKGROUND: Mutations in the surfactant protein C gene (SFTPC) have been recently associated with the development of diffuse lung disease, particularly sporadic and familial interstitial lung disease (ILD). OBJECTIVE: We have investigated the prevalence and the spectrum of SFTPC mutations in a large cohort of infants and children with diffuse lung disease and suspected with surfactant dysfunction. METHOD AND...
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