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

Lookup NU author(s): Dr Charlotte Alston, Dr Robert Pitceathly, Professor Michael Hanna, Dr Andrew Schaefer, Professor Patrick Chinnery, Professor Rita HorvathORCiD, Professor Grainne Gorman


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Publication metadata

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

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: Journal of Medical Genetics: British Human Genetics Conference

Year of Conference: 2011

Pages: S69

ISSN: 0022-2593

Publisher: BMJ Group

Library holdings: Search Newcastle University Library for this item