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Mutations in numerous genes encoding ribosomal proteins (RPs) occur in 50%–70% of individuals with Diamond-Blackfan anemia (DBA), establishing the disease as a ribosomopathy. As described in this issue of JCI, Sankaran, Gazda, and colleagues used genome-wide exome sequencing to study DBA patients wi...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3386834/ https://ncbi.nlm.nih.gov/pubmed/22706300 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI63989 |
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