Mutations in the gene SFTPC, encoding surfactant protein C (SP-C), are associated with
interstitial lung disease in children and adults. To assess the natural history of disease, we …

Background Heterozygous mutations of SFTPC, the gene encoding surfactant protein C (SP-
C), cause sporadic and familial interstitial lung disease (ILD) in children and adults. The …

Background: Heterozygous mutations of SFTPC, the gene-encoding surfactant protein C (SP-
C), result in interstitial lung disease (ILD). However, characterization of mutations located in …

Abstract Background Surfactant protein C (SP-C) is important for the function of pulmonary
surfactant. Heterozygous mutations in SFTPC, the gene encoding SP-C, cause sporadic and …

Surfactant Protein C (SP-C) is a secreted transmembrane protein that is exclusively
expressed by alveolar type II epithelial cells of the lung. SP-C associates with surfactant …

Background: Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung
disease (ILD). Our objective was to report a novel SFTPC mutation and evaluate the effect of …

Summary Mutations of the Surfactant Protein C (SPC) gene (SFTPC) have been associated
with childhood interstitial lung disease (chILD) with variable age of onset, severity of lung …

Interstitial lung disease in both children and adults has been linked to mutations in the lung‐
specific surfactant protein C (SFTPC) gene. Among these, the missense mutation [isoleucine …

Background Monoallelic mutations of the Surfactant Protein C gene (SFTPC) are associated
with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for …

Genetic defects of surfactant metabolism are associated with a broad range of clinical
manifestations, from neonatal respiratory distress syndrome to adult interstitial lung disease …