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A rapid screening method for the factor V Arg506→Gln mutation

Gandrille, S.; Alhenc-Gelas, M.; Aiach, M.
Blood Coagulation & Fibrinolysis: May 1995
Research Papers: PDF Only

This study compared a rapid method to detect the nucleotide mutation 1691 G→A, responsible for the factor V Arg506→Gln substitution, with a previously established denaturing gradient gel electrophoresis (DGGE) technique in 136 patients with unexplained thrombosis. The new method comprises amplification of the factor V gene exon 10 with a modified oligonucleotide, permitting the introduction of a cleavage site for the restriction endonuclease HindIII in the fragments bearing the mutation. This simple, rapid, inexpensive and non-isotopic method gave the same results as the DGGE method in all subjects tested.

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