A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one? (2008)

Author(s): Swalwell H, Blakely E, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns D, Turnbull DM, Haller R, Davidson M, Taylor RW

      • Journal: European Journal of Human Genetics
      • Volume: 16
      • Issue: 10
      • Pages: 1265-1274
      • Publisher: Nature Publishing Group
      • Publication type: Article
      • Bibliographic status: Published

      Professor Robert Taylor
      Professor of Mitochondrial Pathology