Article
Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology - 1 May 1997
Pimstone S N, Defesche J C, Clee S M, Bakker H D, Hayden M R, Kastelein J J
Abstract excerpt
Familial defective apolipoprotein B-100 (FDB) is a dominantly inherited genetic disorder resulting from a point mutation in the apolipoprotein (apo) B gene and is associated with significantly elevated plasma total and LDL cholesterol levels. Despite numerous descriptions outlining the phenotype of children with familial hypercholesterolemia (FH), no study has described the biochemical and clinical phenotype in a...
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