Associated Papers
Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology.
Wang Y et al.
Frontiers in Pediatrics, 2024
38737634 (PubMed )
Supplement: Datasheet1.pdf
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
Phenotypic and Genotypic Heterogeneity of RRM2B Variants.
Finsterer J et al.
Neuropediatrics, 2018
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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