Article
A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease.
Pediatric research - 1 Jun 2017
Hong Da, Qi Yuanyuan, Liu Jing, Wang Huijun, Wang Libo, Qian Liling
Abstract excerpt
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 this mutant on protein synthesis and processing. METHODS: Genomic DNA was extracted from whole blood of a Chinese infant with ILD and candidate genes associated with ILD were sequenced by next-generation sequencing. Subclones of...
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