A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII

J Thromb Haemost. 2012 Nov;10(11):2407-9. doi: 10.1111/jth.12002.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Arthroplasty / adverse effects
  • Binding Sites
  • Blood Coagulation
  • Blood Transfusion
  • Child
  • DNA Mutational Analysis*
  • Factor V Deficiency / genetics*
  • Female
  • Hemophilia A / genetics*
  • Humans
  • Mannose-Binding Lectins / genetics*
  • Membrane Proteins / genetics*
  • Mutation*
  • Necrosis / surgery
  • Polymorphism, Single Nucleotide
  • RNA Splice Sites

Substances

  • LMAN1 protein, human
  • Mannose-Binding Lectins
  • Membrane Proteins
  • RNA Splice Sites