Article
Two novel mutations in the prothrombin gene cause severe bleeding in a compound heterozygous patient.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Nov 1998
Poort S R, Njo K T, Vos H L, Bertina R M
Abstract excerpt
Hypoprothrombinemia is a rare hereditary coagulation defect characterized by low levels of biologically active prothrombin. In this paper we report the laboratory and genetic analysis of a patient with a severe hypoprothrombinemia and some of her relatives. Laboratory analysis showed very low lev...
Topics
- Adult
- Alleles
- Codon, Terminator
- Enzyme-Linked Immunosorbent Assay
- Female
- Hemorrhage
- Heterozygote
- Humans
- Hypoprothrombinemias
- Male
- Point Mutation
- Polymerase Chain Reaction
- Prothrombin
- Sequence Analysis, DNA