Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation.
Vincent
V
Cottin
Philippe
P
Reix
Chahéra
C
Khouatra
Françoise
F
Thivolet-Béjui
Delphine
D
Feldmann
Jean-François
JF
Cordier
D000328:Adult; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D011658:Pulmonary Fibrosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
D037721:Pulmonary Surfactant-Associated Protein C; C489679:SFTPC protein, human; D004247:DNA