How does mutant proprotein convertase neural apoptosis-regulated convertase 1 induce autosomal dominant hypercholesterolemia?
Artikel i vetenskaplig tidskrift, 2004
Lipoproteins/chemistry/metabolism
Genetic Heterogeneity
Point Mutation
LDL/chemistry/metabolism
Missense
Apolipoprotein B-100
Cholesterol Esters/metabolism
Lipoproteins
Mutation
Hyperlipoproteinemia Type II/*genetics/metabolism
Lipoproteins
Lipoproteins
Genes
Dominant
IDL
Amino Acid Substitution
Serine Endopeptidases/chemistry/*genetics
Apolipoproteins B/metabolism
Protein Transport
Humans
VLDL/chemistry/metabolism/secretion
Proteasome Endopeptidase Complex/metabolism
Författare
Pernilla Jirholt
Göteborgs universitet
Martin Adiels
Göteborgs universitet
Jan Borén
Göteborgs universitet
Arteriosclerosis, Thrombosis, and Vascular Biology
1079-5642 (ISSN) 1524-4636 (eISSN)
Vol. 24 8 1334-6Ämneskategorier
MEDICIN OCH HÄLSOVETENSKAP
DOI
10.1161/01.ATV.0000133682.97348.ff