Candidate gene analysis of the surfactant protein D gene in pediatric diffuse lung disease.

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.

SUBMITTER: Gower WA 

PROVIDER: S-EPMC3846094 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature