Abstract
A new case of congenital dysfibrinogenaemia was found in 2 members of the same family. The anomaly was characterized by an abnormal polymerization of fibrin monomers, whereas the release of fibrinopeptides by thrombin and fibrin stabilization by F XIII were normal. Investigation of the fibrinogen molecule did not lead to localizing the structural abnormality.
MeSH terms
-
Adult
-
Afibrinogenemia / blood*
-
Afibrinogenemia / congenital
-
Blood Coagulation Tests
-
Factor XIII / metabolism
-
Female
-
Fibrinogen / analysis*
-
Fibrinogen / biosynthesis
-
Fibrinogen / immunology
-
Fibrinogen / isolation & purification
-
Humans
-
Immunoelectrophoresis
-
Infant
-
Macromolecular Substances
-
Sialic Acids / blood
Substances
-
Macromolecular Substances
-
Sialic Acids
-
Fibrinogen
-
Factor XIII