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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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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2009
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| Assuntos: | |
| Acesso em linha: | 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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