Article
Factor XSanto Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion.
The Journal of clinical investigation - 1 Nov 1991
Watzke H H, Wallmark A, Hamaguchi N, Giardina P, Stafford D W, High K A
Abstract excerpt
Factor X (FX) is a vitamin K-dependent plasma protein required for the intrinsic and extrinsic pathways of blood coagulation. FXSanto Domingo is a hereditary FX deficiency which is characterized clinically by a severe bleeding diathesis. The proposita has a FX activity of less than 1% and a FX antigen of less than 5%. We have determined the molecular basis of the defect in the FXSanto Domingo gene by...
Topics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Factor X
- Factor X Deficiency
- Female
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype