Article
Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length.
Journal of lipid research - 1 Mar 1993
Young S G, Pullinger C R, Zysow B R, Hofmann-Radvani H, Linton M F, Farese R V, Terdiman J F, Snyder S M, Grundy S M, Vega G L
Abstract excerpt
Familial hypobetalipoproteinemia can be caused by mutations in the apolipoprotein (apo)B gene that interfere with the translation of a full-length apoB molecule. Frequently, a truncated apoB molecule can be detected in the plasma lipoproteins of affected subjects. In this report, we characterize...
Topics
- Adult
- Aged
- Apolipoproteins B
- Base Sequence
- Cholesterol
- Female
- Frameshift Mutation
- Humans
- Hypobetalipoproteinemias
- Lipoproteins, VLDL
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation