Factor V null mutation affecting the Roche LightCycler factor V Leiden assay

Clinical Chemistry

Volumn 51, Issue 8, 2005, Pages 1533-1535

  Mahadevan, Mani S ^a   Benson, Paul V ^b  

^a UNIVERSITY OF VIRGINIA   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; DNA;

ADULT; ARTICLE; BLOOD CLOTTING; CASE REPORT; CLINICAL LABORATORY; DEEP VEIN THROMBOSIS; DNA SEQUENCE; FEMALE; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE MUTATION; HEMATOLOGICAL PARAMETERS; HUMAN; LABORATORY TEST; PARTIAL THROMBOPLASTIN TIME; POLYMERASE CHAIN REACTION; PROTHROMBIN TIME;

FACTOR V; FALSE POSITIVE REACTIONS; FEMALE; FLUORESCENCE RESONANCE ENERGY TRANSFER; HUMANS; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; QUALITY CONTROL; VENOUS THROMBOSIS;

EID: 23044451424     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.050351     Document Type: Article

References (6)

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2. von Ahsen N, Schutz E, Armstrong VW, Oellerich M. Rapid detection of prothrombotic mutations of prothrombin (G20210A), factor V (G1691A), and methylenetetrahydrofolate reductase (C677T) by real-time fluorescence PCR with the LightCycler. Clin Chem 1999;45:694-6.
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4. Montefusco MC1 Duga S, Asselta R, Malcovati M, Peyvandi F, Santagostino E, et al. Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations. Blood 2003;102:3210-6.
5. van Wijk R, Nieuwenhuis K, van den Berg M, Huizinga EG, van der Meijden BB, Kraaijenhagen RJ, et al. Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. Blood 2001;98:358-67.
6. Mirochnik O, Halim-Kertanegara N, Henniker AJ, Favaloro EJ, Tiley CR, Hertzberg MS, et al. A novel factor V null mutation at Arg 506 causes a false positive factor V Leiden result. Thromb Haemost 1999;82:1198-9.