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Article

Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity.

Human mutation - 1 Jan 1996

Deeb S S, Nevin D N, Iwasaki L, Brunzell J D

Abstract excerpt

It has been suggested that apo A-IV may play a role in modulating the activation of lipoprotein lipase (LPL) by apo C-II (Goldberg et al., 1990). Therefore, the role of genetic variation at the apolipoprotein A-IV locus in familial combined hyperlipidemia (FCHL) was investigated. A subset of FCHL patients with half the level of plasma LPL activity was screened by single-strand conformation polymorphism (SSCP) for...

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Source

Identifiers

PMID: 8956036
DOI: 10.1002/(SICI)1098-1004(1996)8:4<319::AID-HUMU4>3.0.CO;2-2

Genes

LPL

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.

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Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity.PMID 8956036Read ↗

Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia.Semantic proximity Read ↗

New genetic variants in the apoA-I and apoC-III genes and familial combined hyperlipidemia.Semantic proximity Read ↗

The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity.Semantic proximity Read ↗

Two polymorphisms in the apo A-IV gene and familial combined hyperlipidemia.Semantic proximity Read ↗

A novel polymorphism of apolipoprotein A-IV is the result of an asparagine to serine substitution at residue 127.Semantic proximity Read ↗

Frequency and effects of the apolipoprotein A-IV polymorphism.Semantic proximity Read ↗

Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia.Semantic proximity Read ↗

Association of plasma lipids and apolipoproteins with the insulin response element in the apoC-III promoter region in familial combined hyperlipidemia.Semantic proximity Read ↗

Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hyperlipidaemia.Semantic proximity Read ↗

Genetic evidence from 7 families that the apolipoprotein B gene is not involved in familial combined hyperlipidemia.Semantic proximity Read ↗

No association of apolipoprotein A-IV codon 347 and 360 variation with atherosclerosis and lipid transport in a sample of mixed hyperlipidemics.Semantic proximity Read ↗

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