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Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
The wobble hypothesis was proposed to explain the presence of fewer tRNAs than possible codons. The wobble nucleoside position in the anticodon stem-loop undergoes a number of modifications that help maintain the efficiency and fidelity of translation. AlkB homolog 8 (ALKBH8) is an atypical member o...
Enregistré dans:
| Publié dans: | Am J Hum Genet |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Elsevier
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6556876/ https://ncbi.nlm.nih.gov/pubmed/31079898 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.03.026 |
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