The apolipoprotein B R3531C mutation. Characteristics of 24 subjects from 9 kindreds.

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Article

The apolipoprotein B R3531C mutation. Characteristics of 24 subjects from 9 kindreds.

Journal of lipid research - 1 Feb 1999

Pullinger C R, Gaffney D, Gutierrez M M, Malloy M J, Schumaker V N, Packard C J, Kane J P

Abstract excerpt

Familial ligand-defective apolipoprotein B (apoB) is a group of disorders caused by mutations in the apoB gene. In this report the R3531C mutation is characterized further using a monoclonal antibody MB19/dynamic laser light scattering technique to measure ratios of Cys(3531) to normal low densit...

Topics

Adolescent
Adult
Aged
Alleles
Apolipoproteins B
Child
Electrophoresis, Polyacrylamide Gel
Exons
Female
Fibroblasts
Humans
Lipids
Lipoproteins, LDL
Male
Middle Aged
Pedigree
Point Mutation
Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 9925662

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9925662-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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