Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2007
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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!