Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL.

Atherosclerosis - 1 Jan 2005

Yue Pin, Isley William L, Harris William S, Rosipal Stefan, Akin Carl D, Schonfeld Gustav

Abstract excerpt

We report two novel APOB mutations causing short apolipoprotein B (apoB) truncations undetectable in plasma and familial hypobetalipoproteinemia (FHBL). In Family 56, a 5 bp deletion in APOB exon 7 (870_874del5) causes a frame shift, converting tyrosine to a stop codon (Y220X) and producing an apoB-5 truncation. In Family 59, a point mutation (1941G>T) in APOB exon 13 converts glutamic acid to stop codon (E578X),...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Apolipoproteins B
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Glutamic Acid

Share to Guanine

Share to Hypobetalipoproteinemias

Share to Lipoproteins, LDL

Share to Thymine

Share to Tyrosine

Source

Identifiers

PMID: 15585207
DOI: 10.1016/j.atherosclerosis.2004.06.020

Genes

APOB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL.PMID 15585207Read ↗

Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia.Semantic proximity Read ↗

Identification of a Novel apoB Variant in a Family Exhibiting Hypocholesterolemia: Mechanistic InsightsSemantic proximity Read ↗

Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia.Semantic proximity Read ↗

Dysbetalipoproteinemia in a kindred with hypobetalipoproteinemia due to mutations in the genes for ApoB (ApoB-70.5) and ApoE (ApoE2).Semantic proximity Read ↗

A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia.Semantic proximity Read ↗

APOE p.Leu167del mutation in familial hypercholesterolemia.Semantic proximity Read ↗

Genetic variation of apolipoprotein B can produce both low and high levels of apoB-containing lipoproteins in plasma.Semantic proximity Read ↗

Familial hypobetalipoproteinemia: a reviewSemantic proximity Read ↗

Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.Semantic proximity Read ↗

Identification and molecular analysis of two apoB gene mutations causing low plasma cholesterol levels.Semantic proximity Read ↗

The role of apolipoprotein E genetic variants in lipoprotein disorders.Semantic proximity Read ↗

Frequency of ApoB and ApoE gene mutations as causes of hypobetalipoproteinemia in the framingham offspring population.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.