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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2022
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Materias: | |
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 |