Literature DB >> 8566967

Population study of the G1691A mutation (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C.

A Braun1, B Müller, A A Rosche.   

Abstract

The mutation G1691A (R506Q) in the human factor V gene is associated with the resistance to activated protein C (APC) that represents a major risk of development of venous thrombosis. A population study of 180 unrelated individuals from south Germany was performed. Examination of the allelic frequencies revealed a high prevalence of this disease-related mutation (Q506, FV Leiden). The heterozygosity rate was 7.8% with a confidence interval between 4% and 11%.

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Year:  1996        PMID： 8566967     DOI： 10.1007/bf02265279

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  8 in total

1.  A test based on the exact probability distribution of the chi 2 statistic--incorporation into the MASC method.

Authors:  B Müller; F Clerget-Darpoux
Journal:  Ann Hum Genet       Date:  1991-01       Impact factor: 1.670

Review 2.  Physiological anticoagulation. Resistance to activated protein C and venous thromboembolism.

Authors:  B Dahlbäck
Journal:  J Clin Invest       Date:  1994-09       Impact factor: 14.808

3.  Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C.

Authors:  B Zöller; P J Svensson; X He; B Dahlbäck
Journal:  J Clin Invest       Date:  1994-12       Impact factor: 14.808

4.  Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men.

Authors:  P M Ridker; C H Hennekens; K Lindpaintner; M J Stampfer; P R Eisenberg; J P Miletich
Journal:  N Engl J Med       Date:  1995-04-06       Impact factor: 91.245

5.  Resistance to activated protein C as a basis for venous thrombosis.

Authors:  P J Svensson; B Dahlbäck
Journal:  N Engl J Med       Date:  1994-02-24       Impact factor: 91.245

6.  Anticoagulant protein C pathway defective in majority of thrombophilic patients.

Authors:  J H Griffin; B Evatt; C Wideman; J A Fernández
Journal:  Blood       Date:  1993-10-01       Impact factor: 22.113

7.  Mutation in blood coagulation factor V associated with resistance to activated protein C.

Authors:  R M Bertina; B P Koeleman; T Koster; F R Rosendaal; R J Dirven; H de Ronde; P A van der Velden; P H Reitsma
Journal:  Nature       Date:  1994-05-05       Impact factor: 49.962

8.  Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study.

Authors:  T Koster; F R Rosendaal; H de Ronde; E Briët; J P Vandenbroucke; R M Bertina
Journal:  Lancet       Date:  1993 Dec 18-25       Impact factor: 79.321
  8 in total

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