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A rapid screening method for the factor V Arg506-->Gln mutation.

S Gandrille·M Alhenc-Gelas·M Aiach
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Abstract

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 nonisotopic method gave the same results as the DGGE method in all subjects tested.

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Base SequenceExonsFactor VFactor V DeficiencyHumansMolecular Sequence DataPoint MutationThrombosisJournal Article

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S Gandrille, M Alhenc-Gelas, M Aiach. 1995. A rapid screening method for the factor V Arg506-->Gln mutation.. https://doi.org/10.1097/00001721-199505000-00008

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