Characterization of the first PCSK9 gain of function homozygote

J Am Coll Cardiol. 2015 Nov 10;66(19):2152-2154. doi: 10.1016/j.jacc.2015.08.871.
No abstract available

Publication types

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

MeSH terms

  • DNA / genetics*
  • DNA Mutational Analysis
  • Homozygote
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Hyperlipoproteinemia Type II / metabolism
  • Mutation*
  • Pedigree
  • Proprotein Convertase 9
  • Proprotein Convertases / genetics*
  • Proprotein Convertases / metabolism
  • Serine Endopeptidases / genetics*
  • Serine Endopeptidases / metabolism

Substances

  • DNA
  • PCSK9 protein, human
  • Proprotein Convertase 9
  • Proprotein Convertases
  • Serine Endopeptidases