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A novel 8-bp duplication in ADAT3 causes mild intellectual disability

Inosine is a base located at wobble position 34 of the tRNA anticodon stem–loop, enabling the recognition of more than one codon in the translation process. A heterodimer consists of ADAT3 and ADAT2 and is involved in the adenosine-to-inosine conversion in tRNA. Here, we report the second novel ADAT...

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Detalles Bibliográficos
Autores principales: Salehi Chaleshtori, Ahmad Reza, Miyake, Noriko, Ahmadvand, Mohammad, Bashti, Oranous, Matsumoto, Naomichi, Noruzinia, Mehrdad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960644/
https://www.ncbi.nlm.nih.gov/pubmed/29796286
http://dx.doi.org/10.1038/s41439-018-0007-9