A 10 BP deletion in the apolipoprotein ε gene causing apolipoprotein E deficiency and severe type III hyperlipoproteinemia
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Of the 11 cases of APOE deficiency with reported mutation sites, four were homozygotes and seven were compound heterozygotes or heterozygotes.
“Of the 11 cases of APOE deficiency with reported mutation sites, four were homozygotes and seven were compound heterozygotes or heterozygotes27, 29-40).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [35]
Homozygotes for the APOE 10-bp deletion (Ala209GlyfsTer20), in which 19 amino acids from among the 209 amino acids at the C-terminus were nonfunctional, exhibited severe familial type III HLP.
“Homozygotes for the APOE 10-bp deletion (Ala209GlyfsTer20), in which 19 amino acids from among the 209 amino acids at the C-terminus were nonfunctional, also exhibited severe familial type III HLP35).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [35]
We identified a further subject with familial apo E deficiency and xanthomatosis.
“Recently, we identified a further subject with familial apo E deficiency and xanthomatosis.'4”
From Severe xanthomatosis associated with familial apolipoprotein E deficiency. (1996) · cites this paper as [14]
Cited by
Sorted by citations
APOE gene variants in primary dyslipidemia
Khalil, Y. A., Rabès, J.-P., Boileau, C., & Varret, M. (2021) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2021.05.007 · Cited by 170 · see citing works
Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features
Matsunaga, A., & Saito, T. (2025) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.65393 · Cited by 14 · see citing works
Severe xanthomatosis associated with familial apolipoprotein E deficiency.
Feussner, G. (1996) · Journal of Clinical Pathology · doi:10.1136/jcp.49.12.985 · Cited by 10 · see citing works
Self-citationDijck-Brouwer, D. A. J., van Doormaal, J. J., Kema, I. P., Brugman, A. M., Kingma, A. W., & Muskiet, F. A. J. (2005) · Annals of Clinical Biochemistry: International Journal of Laboratory Medicine · doi:10.1258/0004563054255498 · Cited by 9 · see citing works
- Authors
- Feussner, G., Dobmeyer, J., Lohmer, S., & Wohlfeil, S.
- Venue
- Atherosclerosis
- Publisher
- Elsevier BV
- Published
- 1995-06
- Volume
- 115
- Pages
- S113
- ISSN
- 0021-9150 (ISSN-L)
- OpenAlex
- W2055340637
- Cited by
- 4
- References
- 0
- Citations by year
- 2025: 1
- FWCI
- 1.28
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Atherosclerosis (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Keywords
- apolipoprotein E, apolipoprotein E deficiency, type III hyperlipoproteinemia, gene deletion, genetic mutations, lipoprotein metabolism
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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