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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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| 出版年: | Eur J Hum Genet |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer International Publishing
2020
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| 主題: | |
| オンライン･アクセス: | 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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