Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome

J Thromb Haemost. 2008 Jan;6(1):213-5. doi: 10.1111/j.1538-7836.2007.02828.x. Epub 2007 Nov 6.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ADAM Proteins / deficiency
  • ADAM Proteins / genetics*
  • ADAMTS13 Protein
  • Family Health
  • Hemorrhage / congenital*
  • Humans
  • Mutation*
  • Pedigree
  • Syndrome
  • Thrombosis / congenital*

Substances

  • ADAM Proteins
  • ADAMTS13 Protein
  • ADAMTS13 protein, human