Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V

J. Voorberg; J. Roelse; R. Koopman; H. Büller; F. Berends; J. W. ten Cate; K. Mertens; J. A. van Mourik

doi:https://doi.org/10.1016/S0140-6736(94)92939-4

Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V

J. Voorberg, J. Roelse, R. Koopman, H. Büller, F. Berends, J. W. ten Cate, K. Mertens, J. A. van Mourik

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Research output: Contribution to journal › Comment/Letter to the editor › Academic

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Abstract

Abnormal coagulation factor V may underlie the thrombotic events associated with resistance to activated protein C (APC). We analysed 27 consecutive patients with documented idiopathic (recurrent) thromboembolism for the occurrence of point mutations within the APC sensitive regions of blood coagulation factor V. In 10 patients we observed a single basepair mutation resulting in a substitution of Arg506 to Gln. This mutation was significantly linked to in-vitro resistance to APC in these subjects. This mutation at Arg506 of factor V may form the molecular basis for the thrombotic events associated with APC resistance

Original language	English
Pages (from-to)	1535-1536
Journal	Lancet
Volume	343
Issue number	8912
DOIs	https://doi.org/10.1016/S0140-6736(94)92939-4
Publication status	Published - 1994

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https://doi.org/10.1016/S0140-6736(94)92939-4

Cite this

@article{8c7ddaeeafa941f5a6ee62b78296680f,

title = "Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V",

abstract = "Abnormal coagulation factor V may underlie the thrombotic events associated with resistance to activated protein C (APC). We analysed 27 consecutive patients with documented idiopathic (recurrent) thromboembolism for the occurrence of point mutations within the APC sensitive regions of blood coagulation factor V. In 10 patients we observed a single basepair mutation resulting in a substitution of Arg506 to Gln. This mutation was significantly linked to in-vitro resistance to APC in these subjects. This mutation at Arg506 of factor V may form the molecular basis for the thrombotic events associated with APC resistance",

author = "J. Voorberg and J. Roelse and R. Koopman and H. B{\"u}ller and F. Berends and {ten Cate}, {J. W.} and K. Mertens and {van Mourik}, {J. A.}",

year = "1994",

doi = "https://doi.org/10.1016/S0140-6736(94)92939-4",

language = "English",

volume = "343",

pages = "1535--1536",

journal = "Lancet",

issn = "0140-6736",

publisher = "Elsevier Limited",

number = "8912",

}

TY - JOUR

T1 - Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V

AU - Voorberg, J.

AU - Roelse, J.

AU - Koopman, R.

AU - Büller, H.

AU - Berends, F.

AU - ten Cate, J. W.

AU - Mertens, K.

AU - van Mourik, J. A.

PY - 1994

Y1 - 1994

N2 - Abnormal coagulation factor V may underlie the thrombotic events associated with resistance to activated protein C (APC). We analysed 27 consecutive patients with documented idiopathic (recurrent) thromboembolism for the occurrence of point mutations within the APC sensitive regions of blood coagulation factor V. In 10 patients we observed a single basepair mutation resulting in a substitution of Arg506 to Gln. This mutation was significantly linked to in-vitro resistance to APC in these subjects. This mutation at Arg506 of factor V may form the molecular basis for the thrombotic events associated with APC resistance

AB - Abnormal coagulation factor V may underlie the thrombotic events associated with resistance to activated protein C (APC). We analysed 27 consecutive patients with documented idiopathic (recurrent) thromboembolism for the occurrence of point mutations within the APC sensitive regions of blood coagulation factor V. In 10 patients we observed a single basepair mutation resulting in a substitution of Arg506 to Gln. This mutation was significantly linked to in-vitro resistance to APC in these subjects. This mutation at Arg506 of factor V may form the molecular basis for the thrombotic events associated with APC resistance

U2 - https://doi.org/10.1016/S0140-6736(94)92939-4

DO - https://doi.org/10.1016/S0140-6736(94)92939-4

M3 - Comment/Letter to the editor

C2 - 7911872

SN - 0140-6736

VL - 343

SP - 1535

EP - 1536

JO - Lancet

JF - Lancet

IS - 8912

ER -