Article
Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia.
The Journal of clinical investigation - 1 Apr 1993
Koopman J, Haverkate F, Grimbergen J, Lord S T, Mosesson M W, DiOrio J P, Siebenlist K S, Legrand C, Soria J, Soria C
Abstract excerpt
The molecular defect in the abnormal fibrinogen Dusart (Paris V) that is associated with thrombophilia was determined by sequence analysis of genomic DNA that had been amplified using the polymerase chain reaction. The propositus was heterozygous for a single base change (C-->T) in the A alpha-ch...
Topics
- Adult
- Base Sequence
- Blood Coagulation Disorders
- Fibrin
- Fibrinogen
- Fibrinogens, Abnormal
- Gene Amplification
- Humans
- Immunoblotting
- Male
- Microscopy, Electron
- Molecular Sequence Data
- Mutation
- Platelet Membrane Glycoproteins