Article
Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL.
Atherosclerosis - 1 Jan 2005
Yue Pin, Isley William L, Harris William S, Rosipal Stefan, Akin Carl D, Schonfeld Gustav
Abstract excerpt
We report two novel APOB mutations causing short apolipoprotein B (apoB) truncations undetectable in plasma and familial hypobetalipoproteinemia (FHBL). In Family 56, a 5 bp deletion in APOB exon 7 (870_874del5) causes a frame shift, converting tyrosine to a stop codon (Y220X) and producing an apoB-5 truncation. In Family 59, a point mutation (1941G>T) in APOB exon 13 converts glutamic acid to stop codon (E578X),...
Topics
- Adult
- Apolipoproteins B
- Apolipoproteins E
- Female
- Frameshift Mutation
- Gene Deletion
- Genetic Variation
- Genotype
- Glutamic Acid
- Guanine
- Humans
- Hypobetalipoproteinemias
- Lipoproteins, LDL
- Male
- Pedigree
- Phenotype
- Point Mutation
- Thymine