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

Author

Pernilla Jirholt

University of Gothenburg

Martin Adiels

University of Gothenburg

Jan Borén

University of Gothenburg

Arteriosclerosis, Thrombosis, and Vascular Biology

1079-5642 (ISSN) 1524-4636 (eISSN)

Vol. 24 8 1334-6

Subject Categories

MEDICAL AND HEALTH SCIENCES

DOI

10.1161/01.ATV.0000133682.97348.ff

More information

Created

10/10/2017