Article
Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription.
Pediatric research - 1 Sept 2010
Wambach Jennifer A, Yang Ping, Wegner Daniel J, An Ping, Hackett Brian P, Cole F S, Hamvas Aaron
Abstract excerpt
Dominant mutations in coding regions of the surfactant protein-C gene, SFTPC, cause respiratory distress syndrome (RDS) in infants. However, the contribution of variants in noncoding regions of SFTPC to pulmonary phenotypes is unknown. By using a case-control group of infants > or =34 weeks gesta...
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