Associated Papers
Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.
Su L et al.
Scientific Reports, 2023
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.
Penque BA et al.
European Journal of Medical Genetics, 2019
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Pitceathly RD et al.
Brain : a Journal of Neurology, 2012
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.
Fratter C et al.
Neurology, 2011
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