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.
Keywords: DLD; Diffuse lung disease; SFTPD; SNP; SP; Single nucleotide polymorphism; Surfactant protein; Surfactant protein D gene.
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