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. 2013 Dec;163(6):1778-80.
doi: 10.1016/j.jpeds.2013.06.063. Epub 2013 Aug 9.

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

W Adam Gower  1 , Lawrence M Nogee
Affiliations

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

W Adam Gower et al. J Pediatr. 2013 Dec.

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.

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

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Figures

Figure
Figure. Selection of study cohort
Numbers next to SFTPB and ABCA3 indicate individuals with disease-causing mutations on both alleles of those genes. Numbers next to SFTPC and NKX2.1 indicate individuals with disease-causing mutations on one allele of those genes. ABCA3/SFTPB indicates individuals with a disease-causing mutation on one allele of each gene.
See this image and copyright information in PMC

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