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Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects
Mutations in the gene encoding transfer RNA (tRNA) nucleotidyltransferase, CCA-adding 1 (TRNT1), an enzyme essential for the synthesis of the 3′-terminal CCA sequence in tRNA molecules, are associated with a rare syndrome of congenital sideroblastic anemia, B cell immunodeficiency, periodic fevers,...
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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: |
Elsevier
2020-03-01
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| シリーズ: | Genes and Diseases |
| オンライン･アクセス: | http://www.sciencedirect.com/science/article/pii/S2352304220300131 |
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