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Breaking a single hydrogen bond in the mitochondrial tRNA(Phe)‐PheRS complex leads to phenotypic pleiotropy of human disease

Various pathogenic variants in both mitochondrial tRNA(Phe) and Phenylalanyl‐tRNA synthetase mitochondrial protein coding gene (FARS2) gene encoding for the human mitochondrial PheRS have been identified and associated with neurological and/or muscle‐related pathologies. An important Guanine‐34 (G34...

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Detalles Bibliográficos
Autores principales:	Peretz, Moshe, Tworowski, Dmitry, Kartvelishvili, Ekaterine, Livingston, John, Chrzanowska‐Lightowlers, Zofia, Safro, Mark
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540514/ https://www.ncbi.nlm.nih.gov/pubmed/32115907 http://dx.doi.org/10.1111/febs.15268

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