Familial defective apolipoprotein B-100: haplotype analysis of the arginine(3500)----glutamine mutation.

doi:10.1016/0021-9150(91)90084-g

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Article

Familial defective apolipoprotein B-100: haplotype analysis of the arginine(3500)----glutamine mutation.

Atherosclerosis - 1 Jun 1991

Rauh G, Schuster H, Fischer J, Keller C, Wolfram G, Zöllner N

Abstract excerpt

Familial defective apolipoprotein B-100 (FDB) is a recently identified, dominantly inherited genetic disorder, which leads to an increased serum level of low density lipoprotein (LDL) cholesterol with reduced affinity for the LDL receptor. It is postulated that this disorder results from a G to A mutation at nucleotide 10,708 in exon 26 of the apo B gene creating a substitution of glutamine for arginine in the...

Topics

Adult
Aged
Alleles
Apolipoprotein B-100
Apolipoproteins B
Arginine
Female
Gene Amplification
Glutamine
Haplotypes
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hypercholesterolemia

Lipids

Male

Middle Aged

Mutation

Pedigree

Source

Open in PubMed

Identifiers

PMID: 1892487
DOI: 10.1016/0021-9150(91)90084-g

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1892487-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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