Article
A matrix-assisted laser desorption/ionization time-of-flight based method for screening the 1691G --> A mutation in the factor V gene.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2002
Hung K, Sun X, Ding H, Kalafatis M, Simioni P, Guo B
Abstract excerpt
A point mutation, 1691 G --> A in the coagulation factor V gene results in an Arg506 --> Gln amino acid substitution in the factor V molecule. This mutation, defined as factor VLEIDEN, results in activated protein C (APC) resistance and is the most common genetic risk factor for familial thrombophilia. A new mini-sequencing method using matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass...
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