HMG-boxes, ribosomopathies and neurodegenerative disease

The UBTF E210K neuroregression syndrome is a predominantly neurological disorder caused by recurrent de novo dominant variants in Upstream Binding Factor, that is, essential for transcription of the ribosomal RNA genes. This unusual form of ribosomopathy is characterized by a slow decline in cogniti...

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Detalles Bibliográficos
Autores principales: Moss, Tom, LeDoux, Mark S., Crane-Robinson, Colyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10435976/
https://www.ncbi.nlm.nih.gov/pubmed/37600660
http://dx.doi.org/10.3389/fgene.2023.1225832

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10435976/
https://www.ncbi.nlm.nih.gov/pubmed/37600660
http://dx.doi.org/10.3389/fgene.2023.1225832

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