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Publication:

Pathogenic Mitochondrial tRNA Mutations - Which Mutations Are Inherited and Why? (2009)

Author(s): Elson JL, Swalwell H, Blakely EL, McFarland R, Taylor RW, Turnbull DM

      • Date: 01-11-2009
      • Journal: Human Mutation
      • Volume: 30
      • Issue: 11
      • Pages: E984-E992
      • Publisher: Wiley-Blackwell
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: mitochondrial DNA tRNA mutation threshold inheritance genetic counseling RAGGED-RED FIBERS POINT MUTATION DNA MUTATIONS EXERCISE INTOLERANCE SPORADIC PATIENT TRNA(LYS) GENE PROTEIN-SYNTHESIS SKELETAL-MUSCLE TRNA(HIS) GENE TRNA(PHE) GENE

      Staff

      Dr Joanna Elson

      Dr Bobby McFarland
      DoH/HEFCE Clinical Senior Lecturer and Consultant Paediatric Neurologist