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The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by bone marrow failure, exocrine pancreatic dysfunction, and leukemia predisposition. Mutations in the SBDS gene are identified in most patients with SDS. SBDS encodes a highly conserved protein of unknown function. Da...
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| Hauptverfasser: | , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Society of Hematology
2007
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1975835/ https://ncbi.nlm.nih.gov/pubmed/17475909 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2007-02-075184 |
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