Mutations in the R2 FV gene affect the ratio between the two FV isoforms in plasma.

@article{Castoldi2000MutationsIT,
  title={Mutations in the R2 FV gene affect the ratio between the two FV isoforms in plasma.},
  author={Elisabetta Castoldi and Jan Rosing and Domenico Girelli and L Hoekema and Barbara Lunghi and Federico Mingozzi and Paolo Ferraresi and Simonetta Friso and Roberto Corrocher and Guido Tans and Francesco Bernardi},
  journal={Thrombosis and haemostasis},
  year={2000},
  volume={83 3},
  pages={362-5}
}
Molecular genetics and biochemical studies were performed in homozygotes for the R2 allele (4070G) in the factor V gene, most of them affected by coronary artery disease. Novel polymorphisms (G642T, 156Ser; T1328C, 385Met/Thr), among which a functional candidate (A6755G, 2194Asp/Gly) located in the C2 domain of FV, were identified in the R2 gene. In chromatographic studies R2 FV appeared qualitatively identical to normal FV. However, a relative increase of the more thrombogenic and more… CONTINUE READING

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