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F8 gene mutation spectrum in severe hemophilia A with inhibitors: A large cohort data analysis from a single center in China.

Jie SunZekun LiHuang KunDi AiGang LiXingjuan XieHao GuGuoqing LiuYingzi ZhenZhenping ChenRunhui Wu
Published in: Research and practice in thrombosis and haemostasis (2022)
 gene deleterious mutations, including intron 22 inversions, nonsense mutations, and large deletions or insertions, constitute the main mutation types in people with severe hemophilia A with inhibitors in China, with the latter mutation types (large deletions or insertions in multiple exons, and nonsense mutations in the light chain) signifying for a higher peak titer of inhibitor.
Keyphrases
  • data analysis
  • early onset
  • genome wide
  • copy number
  • drug induced