A novel mutation in the F5 gene (factor V Amsterdam) associated with bleeding independent of factor V procoagulant function-Reference-Cited by-同舟云学术

A novel mutation in the F5 gene (factor V Amsterdam) associated with bleeding independent of factor V procoagulant function

Published:2015-03-12 Issue:11 Volume:125 Page:1822-1825
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Cunha Marisa L. R.¹²^ORCID,Bakhtiari Kamran¹,Peter Jorge¹,Marquart J. Arnoud¹,Meijers Joost C. M.¹³^ORCID,Middeldorp Saskia²^ORCID

Affiliation:

1. Department of Experimental Vascular Medicine, and

2. Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; and

3. Department of Plasma Proteins, Sanquin Research, Amsterdam, The Netherlands

Abstract

Key Points A novel gain-of-function mutation in factor V leading to increased levels of TFPI and bleeding was identified by whole exome sequencing. Factor V Amsterdam (F5 C2588G) resembles the mutation (F5 A2350G) leading to East Texas bleeding disorder.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/125/11/1822/1384498/1822.pdf

Reference5 articles.

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3. A bipartite autoinhibitory region within the B-domain suppresses function in factor V.;Bos;J Biol Chem,2012

4. Restoring the procofactor state of factor Va-like variants by complementation with B-domain peptides.;Bunce;J Biol Chem,2013

5. Tissue factor pathway inhibitor-alpha inhibits prothrombinase during the initiation of blood coagulation.;Wood;Proc Natl Acad Sci USA,2013

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