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Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis

Zöller, Bengt LU orcid and Dahlbäck, Björn LU (1994) In The Lancet 343(8912). p.1536-1538
Abstract
Resistance to activated protein C (APC) is a major cause of familial thrombophilia, and can be corrected by an anticoagulant activity expressed by purified factor V. We investigated linkage between APC resistance and the factor V gene in a large kindred with familial thrombophilia. Restriction fragment length polymorphisms in exon 13 of the factor V gene were informative in 14 family members. The 100% linkage between factor V gene polymorphism and APC resistance strongly suggested a factor V gene mutation as a cause of APC resistance. A point mutation changing Arg506 in the APC cleavage site to a Gln was found in APC resistant individuals. These results suggest factor V gene mutation to be the most common genetic cause of thrombophilia.
Please use this url to cite or link to this publication:
author
and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
gentic linkage, factor V, point mutation, protein S deficiency, venous thromboembolism
in
The Lancet
volume
343
issue
8912
pages
3 pages
publisher
Elsevier
external identifiers
  • scopus:0028291210
  • pmid:7911873
ISSN
1474-547X
language
English
LU publication?
yes
id
c33ca7f8-9858-4cde-a6a7-3f927ab55a53 (old id 1894775)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/7911873
date added to LUP
2016-04-04 14:08:11
date last changed
2021-10-03 04:48:38
@article{c33ca7f8-9858-4cde-a6a7-3f927ab55a53,
  abstract     = {{Resistance to activated protein C (APC) is a major cause of familial thrombophilia, and can be corrected by an anticoagulant activity expressed by purified factor V. We investigated linkage between APC resistance and the factor V gene in a large kindred with familial thrombophilia. Restriction fragment length polymorphisms in exon 13 of the factor V gene were informative in 14 family members. The 100% linkage between factor V gene polymorphism and APC resistance strongly suggested a factor V gene mutation as a cause of APC resistance. A point mutation changing Arg506 in the APC cleavage site to a Gln was found in APC resistant individuals. These results suggest factor V gene mutation to be the most common genetic cause of thrombophilia.}},
  author       = {{Zöller, Bengt and Dahlbäck, Björn}},
  issn         = {{1474-547X}},
  keywords     = {{gentic linkage; factor V; point mutation; protein S deficiency; venous thromboembolism}},
  language     = {{eng}},
  number       = {{8912}},
  pages        = {{1536--1538}},
  publisher    = {{Elsevier}},
  series       = {{The Lancet}},
  title        = {{Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis}},
  url          = {{http://www.ncbi.nlm.nih.gov/pubmed/7911873}},
  volume       = {{343}},
  year         = {{1994}},
}