Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia.

doi:10.1161/01.atv.15.10.1719

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Article

Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia.

Arteriosclerosis, thrombosis, and vascular biology - 1 Oct 1995

Miserez A R, Keller U

Abstract excerpt

Familial defective apolipoprotein B-100 (FDB) is a recently identified autosomal-dominantly inherited disorder caused by a point mutation in the apolipoprotein (apo) B gene. To determine whether the phenotypic characteristics in FDB subjects are similar to those in subjects with familial hypercholesterolemia (FH), 76 kindreds fulfilling the clinical criteria for heterozygous FH/FDB were characterized using...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Alleles
Apolipoprotein B-100
Apolipoproteins B
Body Weight
Child
Child, Preschool
England
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hyperlipoproteinemia Type II

Lipid Metabolism

Male

Middle Aged

Netherlands

Source

Open in PubMed

Identifiers

PMID: 7583549
DOI: 10.1161/01.atv.15.10.1719

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7583549-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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