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Article

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

Arteriosclerosis, thrombosis, and vascular biology - 1 Oct 2000

Rabès J P, Varret M, Devillers M, Aegerter P, Villéger L, Krempf M, Junien C, Boileau C

Abstract excerpt

Familial hypercholesterolemia and familial ligand-defective apolipoprotein B-100 (FDB) are dominantly inherited disorders leading to impaired low-density lipoprotein receptor (LDLR) and apolipoprotein B-100 (APOB) interaction, plasma LDL elevation, and hypercholesterolemia. We previously identified the first French FDB-R3531C proband, a woman with very high total cholesterol, in a group of type IIa...

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Source

Identifiers

PMID: 11031227
DOI: 10.1161/01.atv.20.10.e76

Genes

LDLR
APOB

Variants

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.

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R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.PMID 11031227Read ↗

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