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Updated: May 19, 2026

06:47
Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation
Published on: January 28, 2021
APOE1 mutation in a patient with type III hyperlipoproteinaemia: detailed genetic analysis required
M E Visser1, G M Dallinga-Thie, S J Pinto-Sietsma
1Department of Vascular Medicine, Academic Medical Center, Amsterdam, the Netherlands.
The Netherlands Journal of Medicine
|August 4, 2012
Abstract:
We present the case of a patient with clinical features of familial dysbetalipoproteinaemia (FD) including high levels of total cholesterol, hypertriglyceridaemia and the presence of palmar xanthomas. Whereas genotype analysis identified the APOE3E3 isoform, sequence analysis revealed the presence of one APOE1 allele due to a mutation, p.Lys164Glu, which leads to loss of function of apolipoprotein E (ApoE), a rare cause of dominant FD.
