Article
Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene.
Pediatric research - 1 Jan 2005
Stevens Paul A, Pettenazzo Andrea, Brasch Frank, Mulugeta Surafel, Baritussio Aldo, Ochs Matthias, Morrison Lake, Russo Scott J, Beers Michael F
Abstract excerpt
Human surfactant protein C (hSP-C(1-197)) is synthesized as a 197 amino acid proprotein and cleaved to a mature 3.7 kD form. Although interstitial lung disease in patients with mutations of the hSP-C gene is becoming increasingly recognized, the mechanisms linking molecular events with clinical pathogenesis are not fully defined. We describe a full-term infant with respiratory insufficiency associated with a...
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