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

  1. Lookup NU author(s)
  2. Charlotte Alston
  3. Dr Robert Pitceathly
  4. Professor Michael Hanna
  5. Dr Andrew Schaefer
  6. Professor Patrick Chinnery
  7. Dr Rita Horvath
  8. Dr Grainne Gorman
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
Editor(s)
Publication type Conference Proceedings (inc. Abstract)
Conference NameJournal of Medical Genetics: British Human Genetics Conference
Conference LocationWarwick, Coventry
Year of Conference2011
Date5-7 September 2011
Volume48 (s1)
PagesS69
0022-2593
ISBN
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PublisherBMJ Group
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