Article
Antithrombin III-Amiens: a new family with an Arg47----Cys inherited variant of antithrombin III with impaired heparin cofactor activity.
American journal of hematology - 1 Jan 1991
Roussel B, Dieval J, Delobel J, Fernandez-Rachubinski F, Eng B, Rachubinski R A, Blajchman M A
Abstract excerpt
A family with an antithrombin III variant (AT-III-Amiens) demonstrating abnormal heparin cofactor activity is described. Amplification and direct sequencing of genomic DNA by the polymerase chain reaction procedure permitted the identification of an Arg47----Cys mutation in exon 2 of the variant antithrombin III gene.
Topics
- Adult
- Alleles
- Antithrombin III
- Base Sequence
- Blood Coagulation Tests
- DNA
- Female
- Genetic Variation
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction