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Can we identify patients carrying targeted deleterious DPYD variants with plasma uracil and dihydrouracil? A GPCO-RNPGx retrospective analysis.

Manon LaunayLaure RaymondJérôme GuittonMarie-Anne LoriotEtienne ChatelutVincent HaufroidFabienne ThomasMarie-Christine Etienne-Grimaldi
Published in: Clinical chemistry and laboratory medicine (2024)
genotyping is not sufficiently reliable to identify all patients with complete deficiency.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • peritoneal dialysis
  • prognostic factors
  • copy number
  • genome wide
  • drug delivery
  • dna methylation
  • replacement therapy
  • genetic diversity