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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

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

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]

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