The fibrinogenopathies.
This paper reviews the reported clinical, functional and biochemical abnormalities associated with abnormal fibrinogens. It appears from studies on fibrinogen Detroit that a single amino acid substitution in a critical part of the molecule can lead to major functional abnormalities and clinical consequences of either bleeding or thrombosis. Functional defects observed include: abnormal release of fibrinopeptide A or B or both after incubation with thrombin, abnormal polymerization and abnormal clot stabilization.
D000293:Adolescent; D000328:Adult; D000347:Afibrinogenemia / Q000235:genetics / Q000503:physiopathology*; D000595:Amino Acid Sequence; D001777:Blood Coagulation; D002648:Child; D002675:Child, Preschool; D005260:Female; D005340:Fibrinogen / Q000378:metabolism; D005344:Fibrinopeptide A / Q000378:metabolism; D005345:Fibrinopeptide B / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013329:Structure-Activity Relationship
D005344:Fibrinopeptide A; D005345:Fibrinopeptide B; D005340:Fibrinogen