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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
Smith C., Evans J., Alston CL., Blakely EL., Seller A., Paceathly RDS., Schaefer AM., Tumbull DM., Taylor RW., Gorman GS., Poulton J., Fratter C.
Type
Conference paper
Publication Date
09/2012
Volume
49
Pages
S88 - S88