Molecular characterization of factor X deficiency associated with borderline plasma factor X level

Haematologica. 2004 Apr;89(4):501-2.

Abstract

Borderline plasma factor X (FX) levels might complicate the diagnosis of FX deficiency. An asymptomatic individual with 73% FX activity was identified to be heterozygous for the Val342Ala mutation. Expression studies suggested that this substitution is responsible for a CRM+ FX variant with normal activation but modestly reduced catalytic function.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Factor X / analysis
  • Factor X / metabolism
  • Factor X Deficiency / diagnosis*
  • Factor X Deficiency / genetics
  • Heterozygote
  • Humans
  • Mutation, Missense*

Substances

  • Factor X