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Article

Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.

Clinical chemistry - 1 Mar 2001

Tai E S, Koay E S, Chan E, Seng T J, Loh L M, Sethi S K, Tan C E

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) represent ligand-receptor disorders that are complementary. Individuals with both FH and FDB are unusual. We report a family with both disorders and the impact of the mutations on the phenotypes of the family members. METHODS: We used single strand conformation polymorphism (SSCP) and denaturing gradient gel...

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PMID: 11238294

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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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