Identification and expression of a novel heterozygous frameshift mutation in FGA accounting for congenital hypofibrinogenemia in carriers of severe hemophilia A

Thromb Res. 2020 Sep:193:5-8. doi: 10.1016/j.thromres.2020.05.040. Epub 2020 May 28.
No abstract available

Keywords: Bleeding; Congenital fibrinogen disorders; FGA; Fibrinogen; Hypofibrinogenemia; Mutation.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Afibrinogenemia* / genetics
  • Female
  • Fibrinogen* / genetics
  • Frameshift Mutation / genetics
  • Hemophilia A* / genetics
  • Heterozygote
  • Humans
  • Middle Aged
  • Mutation

Substances

  • FGA protein, human
  • Fibrinogen