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 1334-6

Ämneskategorier

MEDICIN OCH HÄLSOVETENSKAP

DOI

10.1161/01.ATV.0000133682.97348.ff