Document Detail


Inherited defects of coagulation Factor V: the thrombotic side.
MedLine Citation:
PMID:  16246256     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
DNA variations in the Factor V gene have played a major role in thrombosis research ever since the discovery of Factor V Leiden. Here, all relatively common DNA variations in the coding regions of the Factor V gene are discussed. Many of them have been associated with venous thrombosis or related diseases. However, most variations have been studied separately, without taking the presence of other variations in the same gene into account. This means that their association with disease should be interpreted with caution, as it may reflect linkage with another variation. An approach in which a haplotype-based analysis of the Factor V gene is combined with in vitro assays of recombinant proteins is advocated. Finally, a possible reason for the relatively polymorphic nature of the Factor V protein is discussed.
Authors:
H L Vos
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Publication Detail:
Type:  Journal Article; Review     Date:  2005-10-25
Journal Detail:
Title:  Journal of thrombosis and haemostasis : JTH     Volume:  4     ISSN:  1538-7933     ISO Abbreviation:  J. Thromb. Haemost.     Publication Date:  2006 Jan 
Date Detail:
Created Date:  2006-01-13     Completed Date:  2006-02-21     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  101170508     Medline TA:  J Thromb Haemost     Country:  England    
Other Details:
Languages:  eng     Pagination:  35-40     Citation Subset:  IM    
Affiliation:
Haemostasis and Thrombosis Research Center, Department of Haematology C2R-139, Leiden University Medical Center. H.L.Vos@lumc.nl
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MeSH Terms
Descriptor/Qualifier:
Blood Coagulation Disorders, Inherited
Factor V Deficiency / complications*,  genetics
Genetic Variation
Haplotypes
Humans
Thrombosis / etiology*,  genetics

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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