Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses

Shwachman-Diamond syndrome (SDS; OMIM 260400) results from loss-of-function mutations in the Shwachman-Bodian Diamond syndrome (SBDS) gene. It is a multi-system disorder with clinical features of exocrine pancreatic dysfunction, skeletal abnormalities, bone marrow failure and predisposition to leuke...

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Bibliographic Details
Main Authors: Ball, Heather L., Zhang, Bing, Riches, J. Jacob, Gandhi, Rikesh, Li, Jing, Rommens, Johanna M., Myers, Jeremy S.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2009
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2742402/
https://ncbi.nlm.nih.gov/pubmed/19602484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp316
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