Blar i Bergen Open Research Archive på forfatter "0000-0002-9497-736X"
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The phenotypic spectrum of polymerase gamma (POLG) disease from birth to late adulthood
Hikmat, Omar (Doctoral thesis, 2020-09-25)Variants in POLG, the gene encoding the catalytic subunit of DNA-polymerase gamma (polγ), the enzyme that replicates and repairs the mitochondrial genome, are among the most common causes of inherited mitochondrial disease. ...