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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy.

Activated protein C (APC) resistance phenotype/genotype discrepancy is a very rare event. The objective of this study was to characterize the molecular mechanisms in two cases of APC phenotype/genotype discrepancy. An approach using direct sequencing of each exon and splicing junctions of the factor V gene showed that two novel factor V null mutations combined with heterozygous factor V Leiden mutation were responsible for this discrepancy. Our results suggest the necessity to use both phenotypic and genotypic analyses in some cases to determine an accurate diagnosis.[1]

References

  1. Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy. Dargaud, Y., Trzeciak, M.C., Meunier, S., Angei, C., Pellechia, D., Négrier, C., Vinciguerra, C., Dargaud, Y. Br. J. Haematol. (2003) [Pubmed]
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