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Kirsten E. Hoff

National Institutes of Health

5

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Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome

2018 PLOS ONE
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Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases

2017 Ageing Research Reviews
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Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

2016 European Journal of Medical Genetics
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