Article
Prothrombin Padua I: incomplete activation due to an amino acid substitution at a factor Xa cleavage site.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 1994
James H L, Kim D J, Zheng D Q, Girolami A
Abstract excerpt
An individual and an affected brother previously identified as having the variant prothrombin Padua I were studied in order to identify underlying genetic defects. A heterozygous mutation in the prothrombin gene exon 8 was identified as substitution of A for G at nucleotide position 7,312 (Arg271...
Topics
- Amino Acid Sequence
- Base Sequence
- Binding Sites
- Child
- DNA
- Deoxyribonucleases, Type II Site-Specific
- Electrophoresis, Polyacrylamide Gel
- Exons
- Factor Xa
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Prothrombin