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The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events.

Yohann JourdyMathilde FrétignyFanny LassalleDavid LillicrapClaude NégrierChristine Vinciguerra
Published in: Journal of thrombosis and haemostasis : JTH (2020)
We demonstrated that the poly(T)-track in F8 intron 13 is a deletion hotspot. We recommend that deletions in this region should be specifically investigated in all genetically unresolved mild HA patients.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • peritoneal dialysis
  • prognostic factors
  • high resolution
  • mass spectrometry
  • patient reported