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Kinetic and structural changes in H smt PheRS, induced by pathogenic mutations in human FARS 2
Mutations in the mitochondrial aminoacyl‐tRNA synthetases (mtaaRSs) can cause profound clinical presentations, and have manifested as diseases with very selective tissue specificity. To date most of the mtaaRS mutations could be phenotypically recognized, such that clinicians could identify the affe...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521548/ https://www.ncbi.nlm.nih.gov/pubmed/28419689 http://dx.doi.org/10.1002/pro.3176 |