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Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism
Diamond-Blackfan anemia (DBA) is a rare, pure red-cell aplasia that presents during infancy. Approximately 40% of cases are associated with other congenital defects, particularly malformations of the upper limb or craniofacial region. Mutations in the gene coding for the ribosomal protein RPS19 have...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2864449/ https://www.ncbi.nlm.nih.gov/pubmed/20454576 http://dx.doi.org/10.1155/2010/790632 |