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Primary CoQ 10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene.

Aydan DeğerliyurtNadide Başak GülleroğluAyşe Esin Kibar Gül
Published in: The International journal of neuroscience (2022)
instead of the lower doses used in the treatment of mitochondrial disease.
Keyphrases
  • oxidative stress
  • replacement therapy
  • genome wide
  • early onset
  • copy number
  • gene expression
  • combination therapy
  • drug induced
  • smoking cessation