Article
Genetic diagnosis of dysplasminogenemia: detection of an Ala601-Thr mutation in 118 out of 125 families and identification of a new Asp676-Asn mutation.
Thrombosis and haemostasis - 1 Aug 1996
Tsutsumi S, Saito T, Sakata T, Mlyata T, Ichinose A
Abstract excerpt
Dysplasminogenemia (plasminogen abnormality) is frequently found in association with thrombosis. Two types of mutation, Ala601-Thr and Val355-Phe, have already been identified; the precise genetic defects of most of these patients, however, remain unknown. In this study, we examined the genetic D...
Topics
- Adult
- Alanine
- Asparagine
- Aspartic Acid
- Female
- Genetic Testing
- Humans
- Male
- Mutation
- Phenylalanine
- Plasminogen
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational
- Sequence Analysis, DNA
- Structure-Activity Relationship
- Threonine
- Thrombosis