Dominant and recessive RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions (2011)

Author(s): Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Pitceathly RDS, Hanna MG, Poulton J, Brierley C, Staunton TG, Tumpenny PD, Schaefer AM, Chinnery PF, Horvath R, Tumbull DM, Gorman GS

      • Date: 5-7 September 2011
      • Conference Name: Journal of Medical Genetics: British Human Genetics Conference
      • Volume: 48 (s1)
      • Pages: S69
      • Publisher: BMJ Group
      • Publication type: Conference Proceedings (inc. abstract)
      • Bibliographic status: Published



        Charlotte Alston
        Associate Researcher

        Professor Patrick Chinnery
        Wellcome Senior Fellow in Clinical Science and Professor of Neurogenetics

        Dr Grainne Gorman
        Biomedical Research Centre Fellow

        Professor Michael Hanna
        Visiting Professor