Article
A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency. A possible interaction between apo C-II deficiency and apo E4 in a severely hypertriglyceridemic patient.
Atherosclerosis - 1 Apr 1997
Okubo M, Hasegawa Y, Aoyama Y, Murase T
Abstract excerpt
Familial apolipoprotein C-II (apo C-II) deficiency is an autosomal recessive genetic disorder characterized by fasting hypertriglyceridemia and accumulation of chylomicrons in the plasma. To elucidate the genetic defect, the apo C-II gene of a neonatal Japanese patient (C-IITokyo) was analyzed. N...
Topics
- Apolipoprotein C-II
- Apolipoprotein E4
- Apolipoproteins C
- Apolipoproteins E
- Blotting, Southern
- Child
- Gene Amplification
- Genotype
- Haplotypes
- Homozygote
- Humans
- Hypertriglyceridemia
- Introns
- Male
- Phenotype