Genetic defects leading to hereditary thrombotic thrombocytopenic purpura.

@article{Kokame2004GeneticDL,
  title={Genetic defects leading to hereditary thrombotic thrombocytopenic purpura.},
  author={Koichi Kokame and Toshiyuki Miyata},
  journal={Seminars in hematology},
  year={2004},
  volume={41 1},
  pages={34-40}
}
In patients with thrombotic thrombocytopenic purpura (TTP), unusually large multimers of von Willebrand factor (VWF) circulate in the plasma. This is caused by a functional deficiency of VWF-cleaving protease, ADAMTS-13. Although TTP usually occurs as an acquired form due to autoantibodies against ADAMTS-13, the condition may be inherited in an autosomal recessive fashion. Thus far, genomic DNA from 23 patients with hereditary TTP and their families has been analyzed and 33 causative mutations… CONTINUE READING
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