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Article

High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.

Annals of clinical biochemistry - 1 Mar 2008

Liyanage Khemanganee E, Hooper Amanda J, Defesche Joep C, Burnett John R, van Bockxmeer Frank M

Abstract excerpt

BACKGROUND: Familial ligand-defective apolipoprotein B-100 (FDB) is characterized by elevated plasma concentrations of LDL-cholesterol and apolipoprotein (apo) B, normal triglyceride and HDL-cholesterol levels, the presence of tendon xanthomas, and premature coronary artery disease. FDB cannot be clinically distinguished from heterozygous LDL-receptor-defective familial hypercholesterolaemia (FH) without genetic...

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Identifiers

PMID: 18325181
DOI: 10.1258/acb.2007.007077

Genes

APOB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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