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Article

Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases.

European journal of medical research - 24 May 1996

Brugger D, Schuster H, Zöllner N

Abstract excerpt

Familial hypercholesterolemia (FH) is characterized by an increased level of LDL cholesterol, tendon xanthomas and an elevated risk of premature coronary artery disease (CAD). FH is caused by different mutations in the low density lipoprotein receptor (LDLR) gene or by a G to A mutation in exon 26 of the apolipoprotein B gene causing familial defective apolipoprotein B-100 (FDB). To compare the phenotypic...

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Source

Identifiers

PMID: 9360938

Genes

LDLR
CAD

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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