Known mutations of apoB account for only a small minority of hypobetalipoproteinemia

207 subjects with plasma cholesterols <130 mg/dl in whom no apoB truncations were detected in plasma, comprising 28 familial hypobetalipoproteinemia (FHBL) probands from St. Louis, 151 individuals from St. Louis, and 28 individuals from Sicily.

Genetic screening for four specific apoB mutations whose products are not detected in plasma (apoB-4, apoB-9, and two mutations in exons 21 and 25).

Prevalence of the four specific apoB truncation-producing mutations.surrogate