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Article

Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100.

Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Jul 1993

Rubinsztein D C, Raal F J, Seftel H C, Pilcher G, Coetzee G A, van der Westhuyzen D R

Abstract excerpt

Familial defective apolipoprotein B-100 (FDB) and familial hypercholesterolemia (FH) are the common causes of monogenic primary hypercholesterolemia. An individual of mixed English and Afrikaner descent with both FDB and the FH Afrikaner-1 low-density lipoprotein receptor mutation was identified in our laboratory. Subsequent analysis of her extended family revealed the presence of heterozygotes for either FH...

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Source

Identifiers

PMID: 8318509
DOI: 10.1161/01.atv.13.7.1076

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100.PMID 8318509Read ↗

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