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Aminoacylation‐defective bi‐allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness

Aminoacyl‐tRNA synthetases are enzymes that ensure accurate protein synthesis. Variants of the dual‐functional cytoplasmic human glutamyl‐prolyl‐tRNA synthetase, EPRS1, have been associated with leukodystrophy, diabetes and bone disease. Here, we report compound heterozygous variants in EPRS1 in a 4...

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Detalles Bibliográficos
Autores principales:	Jin, Danni, Wek, Sheree A., Cordova, Ricardo A., Wek, Ronald C., Lacombe, Didier, Michaud, Vincent, Musier‐Forsyth, Karin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2022
Materias:	Short Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9898101/ https://www.ncbi.nlm.nih.gov/pubmed/36411955 http://dx.doi.org/10.1111/cge.14269

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