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The c.48G > A variant in the mitochondrial DNA maintenance gene, RRM2B, causes adult-onset autosomal dominant PEO via aberrant splicing

Lookup NU author(s): Dr Charlotte Alston, Dr Andrew Schaefer, Emeritus Professor Doug Turnbull, Professor Robert Taylor, Professor Grainne Gorman


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Publication metadata

Author(s): Smith C, Evans J, Alston CL, Blakely EL, Seller A, Paceathly RDS, Schaefer AM, Turnbull DM, Taylor RW, Gorman GS, Poulton J, Fratter C

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: British Human Genetics Conference

Year of Conference: 2012

Pages: S88-S88

ISSN: 0022-2593

Publisher: BMJ Group

Library holdings: Search Newcastle University Library for this item

Series Title: Journal of Medical Genetics