fibrinogen Columbus

valine replaces glycine at position 200 of the gamma chain

Networked: 3 relevant articles (1 outcomes, 0 trials/studies)

1.	Thrombophilia 08/01/2007 - "The native 340 kDa molecule has a symmetrical trinodular structure composed of a central E-domain connected to outer D-domains by triple helical coiled-coils.1 Several mutations known to cause hypofibrinogenemia occur within the C-terminal gammaD-domain and have helped to elucidate the structurally and functionally important areas of this domain.2-5 Here we report the identification of a novel point mutation gammaG200V (fibrinogen Columbus) causing hypofibrinogenemia and co-segregating with three genetic thrombophilia risk factors." 08/01/2007 - "Fibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia."
2.	Thrombosis (Thrombus) 01/01/2019 - "Fibrinogen Columbus II: A novel c.1075G>T mutation in the FGG gene causing hypodysfibrinogenemia and thrombosis in an adolescent male."
3.	Hemorrhage 01/01/2021 - "Fibrinogen Columbus III: A novel c.963del frameshift mutation in the FGG gene resulting in hypofibrinogenemia with a bleeding phenotype."