Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL

The EARS2 nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the charging of glutamate to mitochondrial tRNA(Glu). Pathogenic EARS2 variants ha...

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Detalles Bibliográficos
Autores principales: Barbosa-Gouveia, Sofia, González-Vioque, Emiliano, Hermida, Álvaro, Suarez, María Unceta, Martínez-González, María Jesús, Borges, Filipa, Wintjes, Liesbeth, Kappen, Antonia, Rodenburg, Richard, Couce, María-Luz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563109/
https://www.ncbi.nlm.nih.gov/pubmed/32887222
http://dx.doi.org/10.3390/genes11091028

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563109/
https://www.ncbi.nlm.nih.gov/pubmed/32887222
http://dx.doi.org/10.3390/genes11091028

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