A novel mutation in ADAMTS13 of a child with Upshaw-Schulman Syndrome

Thromb Haemost. 2014 Nov;112(5):1065-8. doi: 10.1160/TH14-02-0116. Epub 2014 Jul 24.
No abstract available

Publication types

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

MeSH terms

  • ADAM Proteins / biosynthesis
  • ADAM Proteins / chemistry
  • ADAM Proteins / deficiency
  • ADAM Proteins / genetics*
  • ADAMTS13 Protein
  • Codon, Nonsense*
  • Diagnostic Errors
  • Female
  • Frameshift Mutation*
  • Genotype
  • HEK293 Cells
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Mutation, Missense
  • Pedigree
  • Protein Stability
  • Purpura, Thrombocytopenic, Idiopathic / diagnosis
  • Purpura, Thrombotic Thrombocytopenic / diagnosis
  • Purpura, Thrombotic Thrombocytopenic / genetics*
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / metabolism
  • Sequence Deletion
  • Transfection

Substances

  • Codon, Nonsense
  • Recombinant Fusion Proteins
  • ADAM Proteins
  • ADAMTS13 Protein
  • ADAMTS13 protein, human