[Molecular variants of fibrinogen].
In the final step of blood coagulation, fibrin monomers polymerize spontaneously and are covalently linked by factor XIIIa. Mutations in one of the three genes coding for the fibrinogen peptides may disturb this process and lead to diseases such as afibrinogenemia or dysfibrinogenemia, or may even cause hereditary renal amyloidosis. In the brief overview presented here we summarize some of the molecular aspects of these diseases.
Plendl
H
H
Institut für Humangenetik im Universitätsklinikum Kiel, Germany. plendl@medgen.uni-kiel.de
Caliebe
A
A
Grote
W
W
D000686:Amyloidosis / Q000235:genetics; D001778:Blood Coagulation Disorders / Q000235:genetics*; D005260:Female; D005340:Fibrinogen / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics; D008297:Male
D005340:Fibrinogen