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

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

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

Ryan L Davis,Michael W Mosesson,Bryce A Kerlin,Jason A Canner,Frederick B Ruymann,Stephen O Brennan,

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.

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

RL Davis,MW Mosesson,BA Kerlin,JA Canner,FB Ruymann,SO Brennan,

For similar hemic and lymphatic diseases: hematologic diseases: thrombophilia research abstracts see: hemic and lymphatic diseases: hematologic diseases: thrombophilia research

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

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Haematologica

VOLUME: 92

Page Numbers: 1151-2

Journal Abbreviation: Haematologica

ISSN: 1592-8721

DAY: 3

MONTH: Aug

YEAR: 2007

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

Number of References:

LANGUAGE: eng

NlmUniqueID: 417435

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

KEYWORDS: Thrombophilia

MESH TERMS: genetics

Chemical & Substance for Abstract: Fibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia. Information

Substance Name: Methylenetetrahydrofolate Reductase (NAD

Registry Number: EC 1.5.1.20

Grant and Affiliation Information for Fibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia.

AFFILIATION:

Country: Italy

AGENCY: United States NHLBI

GRANT: R01 HL070627

ACRONYM: HL

MEDLINETA: Haematologica

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