+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn

+ Translate
+ Recently Requested

Recurrent thromboembolism in two unrelated patients with double heterozygosity for factor V R506Q and factor II 20210G/A mutations

Recurrent thromboembolism in two unrelated patients with double heterozygosity for factor V R506Q and factor II 20210G/A mutations

Thrombosis and Haemostasis 80(1): 201-202

(PDF emailed within 1 workday: $29.90)

Accession: 033120515

Download citation: RISBibTeXText

PMID: 9684812

Related references

Recurrent thromboembolism in a patient with beta-thalassemia major associated with double heterozygosity for factor V R506Q and prothrombin G20210A mutations. Blood Coagulation & Fibrinolysis 13(5): 461-463, 2002

Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members. Genetics in Medicine 13(1): 67-76, 2011

Venous thromboembolism associated with double heterozygosity for R506Q mutation of factor V and for T298M mutation of protein C in a large family of a previously described homozygous protein C-deficient newborn with massive thrombosis. Blood 88(3): 877-880, 1996

Coinheritance of the HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor V R506Q (factor V Leiden). Blood 94(9): 3062-3066, 1999

Factor XII (Hageman factor) deficiency: a risk factor for development of thromboembolism. Incidence of factor XII deficiency in patients after recurrent venous or arterial thromboembolism and myocardial infarction. Wiener Medizinische Wochenschrift 143(2): 43-50, 1993

Impact of the factor II: G20210A variant on the risk of venous thromboembolism in relatives from families with the factor V: R506Q mutation. European Journal of Haematology 67(3): 165-169, September, 2001

Coexistence of factor V Leiden and Factor II A20210 mutations and recurrent venous thromboembolism. Thrombosis and Haemostasis 82(6): 1583-1587, 1999

Double heterozygosity for Factor V Leiden and Factor V Cambridge mutations associated with low levels of activated protein C resistance in a Spanish thrombophilic family. Thrombosis and Haemostasis 93(6): 1193-1195, 2005

Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T-->G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin. Journal of Thrombosis and Haemostasis 3(7): 1482-1487, 2005

Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency. Blood Coagulation & Fibrinolysis 26(1): 46-49, 2015

Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family. Blood 96(4): 1443-1448, 2000

Do Factor V Leiden and Prothrombin G20210A Mutations Predict Recurrent Venous Thromboembolism in Older Patients?. American Journal of Medicine 130(10): 1220.E17-1220.E22, 2017

Comparative study between the Light Cycler and the PCR-restriction fragment length polymorphism in detecting factor V Leiden and factor II 20210G>A mutations. Clinical Biochemistry 39(7): 767-769, 2006

R506Q and R485K mutations in the Factor V gene Incidence in DVT and hemophilia A patients. Haemostasis 30(Suppl 1): 183, 2000

Impaired APC cofactor activity of factor V plays a major role in the APC resistance associated with the factor V Leiden (R506Q) and R2 (H1299R) mutations. Blood 103(11): 4173-4179, 2004