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 recent...
Topics
- Adult
- Apolipoproteins B
- Blotting, Southern
- Child
- Chromosome Mapping
- Female
- Genes, Dominant
- Genetic Linkage
- Humans
- Hypobetalipoproteinemias
- Lipids
- Lipoproteins
- Male
- Middle Aged
- Mutation
- Pedigree