Article

Fibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia.

Haematologica (impact factor: 6.42). 09/2007; 92(8):1151-2. pp.1151-2
Source: PubMed

ABSTRACT Fibrinogen is an essential component of the coagulation cascade and the acute phase response. 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.

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Keywords

acute phase response
 
C-terminal gammaD-domain
 
cause hypofibrinogenemia
 
co-segregating
 
coagulation cascade
 
essential component
 
functionally
 
genetic thrombophilia risk factors
 
hypofibrinogenemia
 
novel point mutation gammaG200V
 
outer D-domains
 
symmetrical trinodular structure