Article
ApoB-54.8, a truncated apolipoprotein found primarily in VLDL, is associated with a nonsense mutation in the apoB gene and hypobetalipoproteinemia.
Journal of lipid research - 1 Jun 1991
Wagner R D, Krul E S, Tang J, Parhofer K G, Garlock K, Talmud P, Schonfeld G
Abstract excerpt
A new, large kindred with hypobetalipoproteinemia and a previously undescribed truncated form of apolipoprotein B (apoB) has been identified. The asymptomatic, Caucasian male proband (CK, aged 37 years) has total plasma cholesterol, triglyceride, low density lipoprotein-(LDL) cholesterol, high de...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Amino Acid Sequence
- Apolipoproteins B
- Base Sequence
- Child
- Female
- Humans
- Hypobetalipoproteinemias
- Lipoproteins
- Lipoproteins, VLDL
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree