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RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic disorder in which the patients suffer from numerous fractures, skeletal deformities and bluish sclera. The disorder ranges from a mild form to severe and lethal cases. The main objective of this pilot study was to compare the blood transcrip...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Zhytnik, Lidiia, Maasalu, Katre, Reimann, Ene, Märtson, Aare, Kõks, Sulev
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7684725/
https://ncbi.nlm.nih.gov/pubmed/33228694
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-00825-7
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