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Impaired ribosomal subunit association in Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SDS) is an autosomal-recessive marrow failure syndrome with a predisposition to leukemia. SDS patients harbor biallelic mutations in the SBDS gene, resulting in low levels of SBDS protein. Data from nonhuman models demonstrate that the SBDS protein facilitates the release...

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Détails bibliographiques
Auteurs principaux: Burwick, Nicholas, Coats, Scott A., Nakamura, Tomoka, Shimamura, Akiko
Format: Artigo
Langue:Inglês
Publié: American Society of Hematology 2012
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3537309/
https://ncbi.nlm.nih.gov/pubmed/23115272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2012-04-420166
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