Ontology highlight
ABSTRACT:
SUBMITTER: Gower WA
PROVIDER: S-EPMC3846094 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Gower W Adam WA Nogee Lawrence M LM
The Journal of pediatrics 20130809 6
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. ...[more]