Comprehensive Genetic Variant Discovery in the Surfactant Protein B Gene

Completely penetrant mutations in the surfactant protein B gene (SFTPB) and ≥75% reduction of SFTPB expression disrupt pulmonary surfactant function and cause neonatal respiratory distress syndrome. To inform studies of genetic regulation of SFTPB expression, we created a catalogue of SFTPB variants...

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Detalhes bibliográficos
Main Authors: Hamvas, Aaron, Wegner, Daniel J., Carlson, Christopher S., Bergmann, Kelly R., Trusgnich, Michelle A., Fulton, Lucinda, Kasai, Yumi, An, Ping, Mardis, Elaine R., Wilson, Richard K., Cole, F. Sessions
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2765713/
https://ncbi.nlm.nih.gov/pubmed/17597650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1203/PDR.0b013e3180a03232
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