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

Permalink