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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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| Autors principals: | , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2007
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| Matèries: | |
| Accés en línia: | 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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