Article
Two apolipoprotein B gene defects in a kindred with hypobetalipoproteinemia, one of which results in a truncated variant, apoB-61, in VLDL and LDL.
Journal of lipid research - 1 May 1992
Pullinger C R, Hillas E, Hardman D A, Chen G C, Naya-Vigne J M, Iwasa J A, Hamilton R L, Lalouel J M, Williams R R, Kane J P
Abstract excerpt
We report the presence of two distinct defects of the gene for apolipoprotein B, one resulting in a new truncated variant, apoB-61, in a kindred with familial hypobetalipoproteinemia (FHB). The proband (age 33) and a sister (age 36) are both compound heterozygotes with total cholesterol levels of 39 mg/dl and 50 mg/dl, and apoB levels of 1 mg/dl and 2 mg/dl in plasma, respectively. Both appear to be asymptomatic....
Topics
- Adult
- Aged
- Amino Acid Sequence
- Apolipoproteins
- Apolipoproteins B
- Base Sequence
- Cholesterol
- Cholesterol, HDL
- Female
- Haplotypes
- Humans