Factor V R506Q gene mutation analysis by PCR-RFLP : Optimization, comparison with functional testing for resistance to activated protein C, and establishment of cell line controls

Resistance to activated protein C (APC) has been recently identified as a highly prevalent risk factor for the development of venous thrombosis. In the majority of cases, APC resistance correlates with the presence of a single point mutation in the factor V gene (FV R506Q). The mutation is present i...

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Veröffentlicht in:	American journal of clinical pathology 1996-07, Vol.106 (1), p.100-106
Hauptverfasser:	VOELKERDING, K. V, WU, L, WILLIAMS, E. C, HOFFMAN, S. M, SABATINI, L. M, BORCHERDING, W. R, HUBER, S
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Base Sequence Biological and medical sciences Blood Coagulation Disorders - diagnosis Blood Coagulation Disorders - genetics Cell Line, Transformed DNA Mutational Analysis Factor V - analysis Factor V - genetics Factor V - standards Genetic Carrier Screening Hematologic and hematopoietic diseases Homozygote Humans Lymphocyte Activation Medical sciences Molecular Sequence Data Platelet diseases and coagulopathies Polymerase Chain Reaction - methods Polymorphism, Restriction Fragment Length Protein C - physiology
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