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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Detalles Bibliográficos
Autores principales: Hawer, Harmen, Mendelsohn, Bryce A., Mayer, Klaus, Kung, Ann, Malhotra, Amit, Tuupanen, Sari, Schleit, Jennifer, Brinkmann, Ulrich, Schaffrath, Raffael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575589/
https://www.ncbi.nlm.nih.gov/pubmed/32576952
http://dx.doi.org/10.1038/s41431-020-0668-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575589/
https://www.ncbi.nlm.nih.gov/pubmed/32576952
http://dx.doi.org/10.1038/s41431-020-0668-y

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