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Dm Tumbull
Dm Tumbull
Genetics
Biology
Dominance (genetics)
RNA splicing
Mitochondrial DNA
2
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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
2012
Journal of Medical Genetics
C Smith
Julie Evans
Charlotte L. Alston
E.L. Blakely
A Seller
Paceathly Rds.
A. M. Schaefer
Dm Tumbull
Robert W. Taylor
Grainne Gorman
Joanna Poulton
Carl Fratter
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Dominant and recessive RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions
2011
Journal of Medical Genetics
Carl Fratter
P. Raman
Charlotte L. Alston
E.L. Blakely
Kate Craig
C Smith
Julie Evans
A Seller
Birgit Czermin
Rds Pitceathly
Michael G. Hanna
Joanna Poulton
Charlotte Brierley
T.G. Staunton
Pd Tumpenny
A. M. Schaefer
P F Chinnery
Rita Horvath
Dm Tumbull
Grainne Gorman
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