Familial defective apolipoprotein B100: clinical characteristics of 54 cases.

doi:10.1016/0021-9150(92)90283-m

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Article

Familial defective apolipoprotein B100: clinical characteristics of 54 cases.

Atherosclerosis - 1 Feb 1992

Rauh G, Keller C, Kormann B, Spengel F, Schuster H, Wolfram G, Zöllner N

Abstract excerpt

Familial defective apolipoprotein B100 (FDB) is a recently identified dominantly inherited genetic disorder, which is characterized by a decreased affinity of low density lipoprotein (LDL) for the LDL receptor. FDB is caused by 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 codon for amino acid 3500. To determine the consequences of the...

Topics

Adolescent
Adult
Aged
Apolipoprotein B-100
Apolipoproteins B
Base Sequence
Child
Child, Preschool
Cholesterol
DNA
Diagnosis, Differential
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heterozygote

Humans

Hyperlipoproteinemia Type II

Hyperlipoproteinemias

Male

Middle Aged

Source

Open in PubMed

Identifiers

PMID: 1632851
DOI: 10.1016/0021-9150(92)90283-m

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1632851-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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