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Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits
Diamond-Blackfan anemia (DBA) typically presents with red blood cell aplasia that usually manifests in the first year of life. The only gene currently known to be mutated in DBA encodes ribosomal protein S19 (RPS19). Previous studies have shown that the yeast RPS19 protein is required for a specific...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society of Hematology
2007
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1785147/ https://ncbi.nlm.nih.gov/pubmed/16990592 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2006-07-038232 |
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