Linked Life Data

17650452

Source:http://linkedlifedata.com/resource/pubmed/id/17650452

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pubmed-article:17650452pubmed:abstractTextFibrinogen 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.lld:pubmed
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pubmed-article:17650452pubmed:articleTitleFibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia.lld:pubmed
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pubmed-article:17650452pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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