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Article

Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia.

Archives of internal medicine - 25 Oct 1993

Defesche J C, Pricker K L, Hayden M R, van der Ende B E, Kastelein J J

Abstract excerpt

BACKGROUND: Familial defective apolipoprotein B-100 is caused by a substitution of adenine for guanine in exon 26 of the gene coding for apolipoprotein B, which results in the substitution of glutamine for arginine in the putative low-density lipoprotein-receptor binding domain of the mature protein. This amino acid substitution diminishes the binding capacity of the low-density lipoprotein particle for the...

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Source

Identifiers

PMID: 8215738

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Source receipt: pubmed, retrieved 7 Sept 2026.

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