Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura

@article{Levy2001MutationsIA,
  title={Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura},
  author={G. Levy and W. Nichols and E. Lian and T. Foroud and J. McClintick and B. McGee and A. Yang and D. Siemieniak and K. Stark and R. Gruppo and R. Sarode and S. Shurin and Visalam Chandrasekaran and S. Stabler and H. Sabio and E. Bouhassira and J. Upshaw and D. Ginsburg and H. Tsai},
  journal={Nature},
  year={2001},
  volume={413},
  pages={488-494}
}
Thrombotic thrombocytopenic purpura (TTP) is a life-threatening systemic illness of abrupt onset and unknown cause. Proteolysis of the blood-clotting protein von Willebrand factor (VWF) observed in normal plasma is decreased in TTP patients. However, the identity of the responsible protease and its role in the pathophysiology of TTP remain unknown. We performed genome-wide linkage analysis in four pedigrees of humans with congenital TTP and mapped the responsible genetic locus to chromosome… Expand
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References

SHOWING 1-10 OF 54 REFERENCES
Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura.
  • 1,586
von Willebrand factor in thrombotic thrombocytopenic purpura.
  • 87
...
1
2
3
4
5
...