Shwachman–Bodian–Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs

Mutations in the Shwachman–Bodian–Diamond Syndrome (SBDS) gene cause Shwachman–Diamond Syndrome (SDS), a rare congenital disease characterized by bone marrow failure with neutropenia, exocrine pancreatic dysfunction and skeletal abnormalities. The SBDS protein is important for ribosome maturation an...

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Detalhes bibliográficos
Publicado no:Nucleic Acids Res
Main Authors: In, Kyungmin, Zaini, Mohamad A., Müller, Christine, Warren, Alan J., von Lindern, Marieke, Calkhoven, Cornelis F.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
Assuntos:
Gene regulation, Chromatin and Epigenetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4872075/
https://ncbi.nlm.nih.gov/pubmed/26762974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkw005
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