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How does mutant proprotein convertase neural apoptosis-regulated convertase 1 induce autosomal dominant hypercholesterolemia?

AuthorsPernilla Jirholt, Martin Adiels, Jan Borén
JournalArteriosclerosis, thrombosis, and vascular biology (Arterioscler Thromb Vasc Biol) Vol. 24 Issue 8 Pg. 1334-6 (Aug 2004) ISSN: 1524-4636 [Electronic] United States
PMID15297286 (Publication Type: Editorial, Comment)
Chemical References
  • Apolipoprotein B-100
  • Apolipoproteins B
  • Cholesterol Esters
  • Lipoproteins
  • Lipoproteins, IDL
  • Lipoproteins, LDL
  • Lipoproteins, VLDL
  • PCSK9 protein, human
  • Proprotein Convertase 9
  • Proprotein Convertases
  • Serine Endopeptidases
  • Proteasome Endopeptidase Complex
Topics
  • Amino Acid Substitution
  • Apolipoprotein B-100
  • Apolipoproteins B (metabolism)
  • Cholesterol Esters (metabolism)
  • Genes, Dominant
  • Genetic Heterogeneity
  • Humans
  • Hyperlipoproteinemia Type II (genetics, metabolism)
  • Lipoproteins (chemistry, metabolism)
  • Lipoproteins, IDL
  • Lipoproteins, LDL (chemistry, metabolism)
  • Lipoproteins, VLDL (chemistry, metabolism)
  • Mutation, Missense
  • Point Mutation
  • Proprotein Convertase 9
  • Proprotein Convertases
  • Proteasome Endopeptidase Complex (metabolism)
  • Protein Transport
  • Serine Endopeptidases (chemistry, genetics)

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