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Ribosomopathies: human disorders of ribosome dysfunction
Ribosomopathies compose a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes. Congenital mutations in RPS19 and other genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characteriz...
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| Main Authors: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
American Society of Hematology
2010
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2858486/ https://ncbi.nlm.nih.gov/pubmed/20194897 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2009-10-178129 |
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