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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...

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Détails bibliographiques
Publié dans:Am J Hum Genet
Auteurs principaux: Monies, Dorota, Vågbø, Cathrine Broberg, Al-Owain, Mohammad, Alhomaidi, Suzan, Alkuraya, Fowzan S.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2019
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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