Article
MUC5B expression and location in surfactant protein C mutations in children.
Pediatric pulmonology - 1 Dec 2015
Liptzin Deborah R, Watson Alan M, Murphy Elissa, Kroehl Miranda E, Dishop Megan K, Galambos Csaba, Evans Christopher M, Schwarz Marvin I, Deterding Robin R, Schwartz David A
Abstract excerpt
BACKGROUND: Mutations in Surfactant Protein C (SFTPC) can lead to fibrotic interstitial lung disease (ILD) with variable phenotypes, especially in children. The sources of phenotype variability are incompletely understood. A common MUC5B promoter variant rs35705950 is associated with adult Idiopathic Pulmonary Fibrosis (IPF). We examined whether MUC5B is similarly linked to ILD secondary to SFTPC mutations....
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