New surfactant protein C gene mutations associated with diffuse lung disease - 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; et al. (Journal of medical genetics, 2009)
Keywords: Amino acids; Biological and medical sciences; Child; Child, Preschool; Cohort Studies; DNA Mutational Analysis; Families & family life; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Humans; Infant; Lung diseases; Lung Diseases - genetics; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Mutation; Pedigree; Proteins; Pulmonary Surfactant-Associated Protein C - genetics; Surfactants; Reunion Island; Diffuse; Human; Lung disease; Association; Gene; Pulmonary surfactant; Respiratory disease; Genetics; Protein C; Mutation; Surfactant; Molecular genetics; Diffuse parenchymal lung disease