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...
Main Authors: | , , , , , |
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Format: | Online |
Language: | English |
Published: |
Oxford University Press
2016
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4872075/ |