Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management.

  title={Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management.},
  author={A Casini and M Neerman-Arbez and Robert A S Ari{\"e}ns and Philippe de Moerloose},
  journal={Journal of thrombosis and haemostasis : JTH},
  volume={13 6},
Congenital dysfibrinogenemia is a qualitative congenital fibrinogen disorder characterized by normal antigen levels of a dysfunctional fibrinogen. The diagnosis is usually based on discrepancies between fibrinogen activity and antigen levels, but could require more specialized techniques for the assessment of fibrinogen function, owing to some limitations in routine assays. Molecular abnormalities, which are frequently heterozygous missense mutations localized in exon 2 of FGA and exon 8 of FGG… CONTINUE READING


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