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Five new F10 variants in hereditary factor x deficiency detected by high-throughput sequencing.

Cédric PastoretClémentine WahlSabine CastetFabienne NedelecAdeline PontisSophie BayartThierry FestPhilippe Gautier
Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2023)
This study showed the feasibility and the interest of high-throughput sequencing approach for rare bleeding disorders, enabling the report of F10 gene screening in a 3-weeks delay, suitable for clinical use. The description of five new variants may contribute to a better understanding of the phenotype-genotype correlation in FX deficiency.
Keyphrases
  • high throughput sequencing
  • copy number
  • replacement therapy
  • genome wide
  • atrial fibrillation
  • dna methylation
  • gene expression
  • transcription factor
  • genome wide identification