Article
A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene.
Journal of internal medicine - 1 Jan 1991
Fazio S, Sidoli A, Vivenzio A, Maietta A, Giampaoli S, Menotti A, Antonini R, Urbinati G, Baralle F E, Ricci G
Abstract excerpt
Familial hypobetalipoproteinaemia (FHBL) is a dominant disorder of lipoprotein metabolism characterized by levels of apolipoprotein B-carrying lipoproteins (VLDL, IDL and LDL) which are 50% of the normal levels in the heterozygotes and almost absent in the homozygotes. Several reports have recently shown that the underlying defect in FHBL involves different mutations in the apo B gene which lead to reduced levels...
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