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Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy
We describe a novel type of ribosomopathy that is defined by deficiency in diphthamidylation of translation elongation factor 2. The ribosomopathy was identified by correlating phenotypes and biochemical properties of previously described patients with diphthamide biosynthesis gene 1 (DPH1) deficien...
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| 發表在: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Springer International Publishing
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7575589/ https://ncbi.nlm.nih.gov/pubmed/32576952 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0668-y |
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