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Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects.

Ola HammarstenAnna LyytikäinenSofia ThunströmTorben EkAnders FasthOlov EkwallSara CajanderEmilie Wahren BorgströmC I Edvard SmithPegah Johansson
Published in: Orphanet journal of rare diseases (2022)
The combination of the CDA and the γ-H2AX assay is useful in investigating the significance of unknown variants in some DNA repair genes.
Keyphrases
  • dna repair
  • dna damage
  • dna damage response
  • oxidative stress
  • high throughput
  • genome wide
  • copy number
  • drug induced
  • bioinformatics analysis
  • transcription factor