Article
Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glu102Lys) in the second EGF-like domain.
British journal of haematology - 1 Aug 1995
Marchetti G, Castaman G, Pinotti M, Lunghi B, Di Iasio M G, Ruggieri M, Rodeghiero F, Bernardi F
Abstract excerpt
The presence of gene lesions in coagulation factor X (FX, Stuart factor) was investigated in asymptomatic subjects with FX deficiency characterized by the presence of dysfunctional molecules in plasma, as demonstrated by the discrepancy between clotting activity and antigen level. A missense muta...
Topics
- Base Sequence
- Blood Coagulation
- Blotting, Western
- Exons
- Factor X
- Factor X Deficiency
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Genetic