A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F 5 R 506 Q (factor V L eiden) mutation-Reference-Cited by-同舟云学术

A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F 5 R 506 Q (factor V L eiden) mutation

Published:2013-08-19 Issue:3 Volume:163 Page:414-417
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Prüller Florian¹²,Raggam Reinhard B.¹²,Mangge Harald¹³,Truschnig‐Wilders Martie¹,Matzhold Eva‐Maria⁴,Weiss Eva‐Christine⁵,Hasiba Barbara⁶,Summers Kelli L.¹,Renner Wilfried¹,Siegert Gabriele⁷,Kostka Heike⁷

Affiliation:

1. Clinical Institute of Medical and Chemical Laboratory Diagnostics Medical University of Graz Graz Austria

2. Research Unit Perioperative Platelet Function Medical University of Graz Graz Austria

3. Research Unit Lifestyle‐ and Inflammation‐associated Risk Biomarkers Medical University of Graz Graz Austria

4. University Clinic of Blood Group Serology and Transfusion Medicine Medical University of Graz Graz Austria

5. Department of Obstetrics and Gynaecology Medical University of Graz Graz Austria

6. Working Group for Family Medicine Institute of Social Medicine and Epidemiology Medical University of Graz Graz Austria

7. Institute of Clinical Chemistry and Laboratory Medicine Technische Universitaet Dresden Dresden Germany

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.12506

Reference10 articles.

1. Rescue of activated protein C‐resistance phenotype by cis‐acting factor V Gly2032Asp mutation;Asselta R.;Haematologica,2004

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

3. Expression of the normal factor V allele modulates the APC resistance phenotype in heterozygous carriers of the factor V Leiden mutation

4. Risk of Venous Thromboembolism and Clinical Manifestations in Carriers of Antithrombin, Protein C, Protein S Deficiency, or Activated Protein C Resistance

5. Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V

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