Candidate gene analysis of the surfactant protein D gene in pediatric diffuse lung disease.
Where this comes from
- Record sourced from PubMed, PMID 23932215.
- Also identified by DOI 10.1016/j.jpeds.2013.06.063 and PMC identifier 3846094.
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Abstract
Mutations in surfactant-associated genes cause childhood diffuse lung disease. Mice lacking surfactant protein D develop lung disease with age. However, we identified no novel surfactant protein D gene (SFTPD) coding or splice region variants in 73 unrelated children with diffuse lung disease from a cohort enriched for genetic surfactant dysfunction.
Medical subject headings
- Genetic Association Studies
- Lung Diseases
- Pulmonary Surfactant-Associated Protein D