The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family

Clin Chem Lab Med. 2014 Aug;52(8):e175-8. doi: 10.1515/cclm-2014-0144.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • Female
  • Humans
  • Lipid Metabolism
  • Proprotein Convertase 9
  • Proprotein Convertases / genetics
  • Proprotein Convertases / metabolism*
  • Receptors, LDL / metabolism*
  • Serine Endopeptidases / genetics
  • Serine Endopeptidases / metabolism*

Substances

  • Receptors, LDL
  • PCSK9 protein, human
  • Proprotein Convertase 9
  • Proprotein Convertases
  • Serine Endopeptidases