Article
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.
Thrombosis and haemostasis - 1 Mar 2015
Asselta Rosanna, Platè Manuela, Robusto Michela, Borhany Munira, Guella Ilaria, Soldà Giulia, Afrasiabi Abdolreza, Menegatti Marzia, Shamsi Tahir, Peyvandi Flora, Duga Stefano
Abstract excerpt
Fibrinogen is a plasma glycoprotein mainly synthesised by hepatocytes and circulating as a 340-kDa hexamer consisting of two sets of three different polypeptide chains (Aα, Bβ, and γ, encoded by the FGA, FGB, and FGG gene, respectively). Congenital afibrinogenaemia and hypofibrinogenaemia are rare bleeding disorders characterised by abnormally low levels of functional and immunoreactive fibrinogen in plasma,...
Topics
- Adult
- Afibrinogenemia
- Animals
- Blood Coagulation
- Blood Coagulation Tests
- COS Cells
- Child
- Child, Preschool
- Chlorocebus aethiops
- DNA Mutational Analysis
- Female
- Fibrinogen
- Genetic Predisposition to Disease