Single-nucleotide variations defining previously unreported ADAMTS13 haplotypes are associated with differential expression and activity of the VWF-cleaving protease in a Salvadoran congenital thrombotic thrombocytopenic purpura family

Br J Haematol. 2014 Apr;165(1):154-8. doi: 10.1111/bjh.12713. Epub 2014 Jan 16.
No abstract available

Keywords: ADAMTS13; congenital thrombotic thrombocytopenic purpura; haplotypes; phenotypes; quantitative trait nucleotides.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • ADAM Proteins / genetics*
  • ADAM Proteins / metabolism*
  • ADAMTS13 Protein
  • Child
  • Child, Preschool
  • Female
  • Gene Expression Regulation
  • Haplotypes*
  • Humans
  • Male
  • Polymorphism, Single Nucleotide*
  • Purpura, Thrombotic Thrombocytopenic / diagnosis
  • Purpura, Thrombotic Thrombocytopenic / genetics*
  • Purpura, Thrombotic Thrombocytopenic / metabolism*
  • von Willebrand Factor / genetics*
  • von Willebrand Factor / metabolism*

Substances

  • von Willebrand Factor
  • ADAM Proteins
  • ADAMTS13 Protein
  • ADAMTS13 protein, human