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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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| Publicado no: | Genes Dis |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Chongqing Medical University
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7063413/ https://ncbi.nlm.nih.gov/pubmed/32181284 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gendis.2020.01.005 |
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