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Pearson syndrome in a Diamond-Blackfan anemia cohort
In this issue of Blood, Gagne et al describe a cohort of 362 patients clinically classified as having Diamond-Blackfan anemia (DBA), in which 175 (48%) were found to have mutations and deletions in ribosomal protein genes or GATA1, and 8 of the remaining patients (2.2% overall) had mitochondrial gen...
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| 第一著者: | |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society of Hematology
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4102705/ https://ncbi.nlm.nih.gov/pubmed/25035146 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-04-571687 |
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