The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.

@article{Reitsma1991TheSO,
  title={The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.},
  author={Pieter H. Reitsma and Swibertus R Poort and Cornelia F. Allaart and Ernest Bri{\"e}t and Rogier M. Bertina},
  journal={Blood},
  year={1991},
  volume={78 4},
  pages={890-4}
}
Heterozygosity for protein C deficiency is associated with thromboembolic episodes, but clinical symptoms are nonrandomly distributed among protein C deficient families. This finding has led to the provisional definition of clinically dominant and clinically recessive protein C deficiency. We report here the molecular basis of hereditary, clinically dominant protein C deficiency in a panel of 40 Dutch probands from apparently independent families. All but one subject was a heterozygote for a… CONTINUE READING

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