Fibrinogen Marseille. A new case of congenital dysfibrinogenaemia.
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.
D000328:Adult; D000347:Afibrinogenemia / Q000097:blood* / Q000151:congenital; D001780:Blood Coagulation Tests; D005176:Factor XIII / Q000378:metabolism; D005260:Female; D005340:Fibrinogen / Q000032:analysis* / Q000096:biosynthesis / Q000276:immunology / Q000302:isolation & purification; D006801:Humans; D007122:Immunoelectrophoresis; D007223:Infant; D046911:Macromolecular Substances; D012794:Sialic Acids / Q000097:blood
D046911:Macromolecular Substances; D012794:Sialic Acids; D005340:Fibrinogen; D005176:Factor XIII