Download PDF
Thromb Haemost 1995; 74(05): 1379-1380
DOI: 10.1055/s-0038-1649943
Letter to the Editor
Schattauer GmbH Stuttgart

Single Point Mutation at Arg506 of Factor V Associated with APC Resistance and Venous Thromboembolism: Improved Detection by PCR-Mediated Site-Directed Mutagenesis

J P Rabès
1   Laboratoire de Biochimie, d’Hormonologie et de Génétique Moléculaire, CHU Ambroise Paré, Boulogne, France
2   INSERM U383, Université René Descartes – Paris V, Hôpital Necker – Enfants Malades, Paris, France
,
M Trossaert
3   Service d’Hématologie Biologique, CHU Hôtel Dieu, Paris, France
,
J Conard
3   Service d’Hématologie Biologique, CHU Hôtel Dieu, Paris, France
,
M Samama
3   Service d’Hématologie Biologique, CHU Hôtel Dieu, Paris, France
,
P Giraudet
1   Laboratoire de Biochimie, d’Hormonologie et de Génétique Moléculaire, CHU Ambroise Paré, Boulogne, France
,
C Boileau
1   Laboratoire de Biochimie, d’Hormonologie et de Génétique Moléculaire, CHU Ambroise Paré, Boulogne, France
2   INSERM U383, Université René Descartes – Paris V, Hôpital Necker – Enfants Malades, Paris, France
› Author Affiliations
Further Information

Publication History

Received 14 April 1995

Accepted after revision26 July 1995

Publication Date:
10 July 2018 (online)

  PDF Download  Permissions and Reprints
 

  • References

  • 1 Bertina RM, Koeleman BP C, Koster T, Rosendaal FT, Dirven RJ, Ronde Hde, Velden PP van der, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-67
    CrossrefPubMedGoogle Scholar
  • 2 Voorberg J, Roelse J, Koopman R, Biiller H, Berends F, ten Cate JW, Mertens K, van Mourik JA. Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. Lancet 1994; 343: 1535-1536
    CrossrefPubMedGoogle Scholar
  • 3 Zöller B, Dahlbäck B. Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 1994; 343: 1536-1538
    CrossrefPubMedGoogle Scholar
  • 4 Koster T, Rosendaal FT, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet 1993; 342: 1503-1506
    CrossrefPubMedGoogle Scholar
  • 5 Svensson PJ, Dählback B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330: 517-522
    CrossrefPubMedGoogle Scholar
  • 6 Haliassos A, Chomel JC, Tesson L, Baudis M, Kruh J, Kaplan JC, Kitzis A. Modification of enzymatically amplified DNA for the detection of point mutation. Nucl Acids Res 1989; 17: 3606
    CrossrefPubMedGoogle Scholar
  • 7 Jenny RJ, Pittman DD, Toole JJ, Kriz RW, Aldape RA, Hewick RM, Kaufman RJ, Mann KG. Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci USA 1987; 84: 4846-4850
    CrossrefPubMedGoogle Scholar
  • 8 Wenham PR, Newton CR, Houlston RS, Price WH. Rapid diagnosis of familial defective apolipoprotein B-100 by amplification refractory mutation system. Clin Chem 1991; 37: 1983-1987
    PubMedGoogle Scholar
  • 9 Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 1988; 16: 1215
    CrossrefPubMedGoogle Scholar