Genetic and phenotypic variability between families with hereditary protein S deficiency.

@article{Rezende2002GeneticAP,
  title={Genetic and phenotypic variability between families with hereditary protein S deficiency.},
  author={Suely M Rezende and David A. Lane and Bengt Z{\"o}ller and Blandine Mille-Baker and Mike A. Laffan and Bj{\"o}rn Dahlb{\"a}ck and Rachel E Simmonds},
  journal={Thrombosis and haemostasis},
  year={2002},
  volume={87 2},
  pages={
          258-65
        }
}
While many mutations thought to result in protein S (PS) deficiency are known, there have been few attempts to relate genotype expression with plasma phenotype. We have investigated the nature and consequence of PS gene (PROS1) mutations in 17 PS-deficient families who presented with mixed type I and type III phenotypes. Seven different mutations were found in nine families: delG-34 (STOP codon at -24), Val-24Glu, Arg49Cys, Asn217Ser, Gly295Val, +5 G to A intron j and His623Pro. PS wild type… CONTINUE READING

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