Article
Molecular basis of fibrinogen Naples associated with defective thrombin binding and thrombophilia. Homozygous substitution of B beta 68 Ala----Thr.
The Journal of clinical investigation - 1 Jul 1992
Koopman J, Haverkate F, Lord S T, Grimbergen J, Mannucci P M
Abstract excerpt
In an abnormal fibrinogen (fibrinogen Naples) associated with congenital thrombophilia we have identified a single base substitution (G----A) in the B beta chain gene that results in an amino acid substitution of alanine by threonine at position 68 in the B beta chain of fibrinogen. The propositu...
Topics
- Adult
- Base Sequence
- Blood Coagulation
- Fibrin
- Fibrinogens, Abnormal
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation
- Plasminogen
- Thrombin
- Thrombosis
