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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Ganapathi, Karthik A., Austin, Karyn M., Lee, Chung-Sheng, Dias, Anusha, Malsch, Maggie M., Reed, Robin, Shimamura, Akiko
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Hematology 2007
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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