Mitochondrial tRNA Mutations: Clinical and Functional Perturbations

@article{Zifa2007MitochondrialTM,
  title={Mitochondrial tRNA Mutations: Clinical and Functional Perturbations},
  author={Emily Zifa and Stamatina Giannouli and Paschalis Theotokis and Costas Stamatis and Zissis Mamuris and Constantinos Stathopoulos},
  journal={RNA Biology},
  year={2007},
  volume={4},
  pages={38 - 66}
}
During the last decade, there has been a progressive accumulation of reports that connect the identification of specific mitochondrial tRNA gene mutations to severe disorders in human. As a result, mitochondrial tRNA genes and their products have emerged as novel and essential molecular markers for wide biochemical and genetic screenings among different human populations. So far, 139 pathogenic and 243 polymorphic mt tRNA mutations have been described and they have become the foreground of… 

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