NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

The recent identification of NAA80/NAT6 as the enzyme that acetylates actins generated new insight into the process of post-translational actin modifications; however, the role of NAA80 in human physiology and pathology has not been clarified yet. We report two individuals from a single family harbo...

Descripción completa

Detalles Bibliográficos
Autores principales: Muffels, Irena J J, Wiame, Elsa, Fuchs, Sabine A, Massink, Maarten P G, Rehmann, Holger, Musch, Jiska L I, Van Haaften, Gijs, Vertommen, Didier, van Schaftingen, Emile, van Hasselt, Peter M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8599064/
https://www.ncbi.nlm.nih.gov/pubmed/34805998
http://dx.doi.org/10.1093/braincomms/fcab256

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8599064/
https://www.ncbi.nlm.nih.gov/pubmed/34805998
http://dx.doi.org/10.1093/braincomms/fcab256

Ejemplares similares