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rdf:type |
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lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0026882,
umls-concept:C0205314,
umls-concept:C0332281,
umls-concept:C0398623,
umls-concept:C0553681,
umls-concept:C0678227,
umls-concept:C0679622,
umls-concept:C1552644,
umls-concept:C1823153,
umls-concept:C2000446,
umls-concept:C2349976
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pubmed:issue |
8
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pubmed:dateCreated |
2007-7-25
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pubmed:abstractText |
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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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1592-8721
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
92
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1151-2
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pubmed:dateRevised |
2007-12-3
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pubmed:meshHeading |
pubmed-meshheading:17650452-Activated Protein C Resistance,
pubmed-meshheading:17650452-Adult,
pubmed-meshheading:17650452-Afibrinogenemia,
pubmed-meshheading:17650452-Amino Acid Substitution,
pubmed-meshheading:17650452-Cerebral Hemorrhage,
pubmed-meshheading:17650452-Child, Preschool,
pubmed-meshheading:17650452-Diseases in Twins,
pubmed-meshheading:17650452-Factor V,
pubmed-meshheading:17650452-Female,
pubmed-meshheading:17650452-Fibrinogens, Abnormal,
pubmed-meshheading:17650452-Genotype,
pubmed-meshheading:17650452-Humans,
pubmed-meshheading:17650452-Infant, Newborn,
pubmed-meshheading:17650452-Male,
pubmed-meshheading:17650452-Methylenetetrahydrofolate Reductase (NADPH2),
pubmed-meshheading:17650452-Models, Molecular,
pubmed-meshheading:17650452-Mutation, Missense,
pubmed-meshheading:17650452-Pedigree,
pubmed-meshheading:17650452-Point Mutation,
pubmed-meshheading:17650452-Protein Conformation,
pubmed-meshheading:17650452-Protein Structure, Tertiary,
pubmed-meshheading:17650452-Risk Factors,
pubmed-meshheading:17650452-Structure-Activity Relationship,
pubmed-meshheading:17650452-Thrombophilia
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pubmed:year |
2007
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pubmed:articleTitle |
Fibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia.
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pubmed:publicationType |
Letter,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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