A distinct common p.Gln317* mutation among causative LMAN1 genetic mutations of combined factor V and factor VIII deficiency in five Taiwanese families

Haemophilia. 2022 Jan;28(1):e28-e31. doi: 10.1111/hae.14458. Epub 2021 Nov 11.
No abstract available

Publication types

  • Letter

MeSH terms

  • Factor V / genetics
  • Factor V Deficiency* / genetics
  • Factor VIII / genetics
  • Hemophilia A* / genetics
  • Humans
  • Mannose-Binding Lectins* / genetics
  • Membrane Proteins* / genetics
  • Mutation

Substances

  • LMAN1 protein, human
  • Mannose-Binding Lectins
  • Membrane Proteins
  • Factor V
  • Factor VIII