|
rs11542041
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Recessive type III HLP is caused by apoE2 (Arg(158) Cys), a mutant with diminished low-density lipoprotein (LDL) receptor binding but halfnormal heparin binding.
|
11181800 |
2001 |
|
rs11542041
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Type III hyperlipoproteinaemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (arg-158-->Cys).
|
8682150 |
1996 |
|
rs11542041
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Although most subjects with type III HLP are homozygous for apolipoprotein (apo) E2 (arg158-->cys, R158C), a variant that binds defectively to cell surface receptors, some individuals with type III HLP have rare mutations of apo E. We identified six subjects from three families with type III HLP who had either an apo E3/1 or E4/1 phenotype by isoelectric focusing.
|
7883834 |
1995 |
|
rs573658040
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This analysis revealed an apoE2/E2 (arginine 145 to cysteine) mutation, previously reported to be a rare cause of type III HLP in 5 patients of African descent.
|
16690468 |
2006 |
|
rs573658040
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We propose that in the analysed family this rare apo E2 (Arg-136-->Cys) variant is associated with late-onset dominance of type III HLP.
|
8682150 |
1996 |
|
rs198388
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three NPPA-NPPB polymorphisms (rs632793, rs198388 and rs198389) were associated with reduced risk of LVD in CAD patients with HLP.
|
25400811 |
2014 |
|
rs198389
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three NPPA-NPPB polymorphisms (rs632793, rs198388 and rs198389) were associated with reduced risk of LVD in CAD patients with HLP.
|
25400811 |
2014 |
|
rs632793
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three NPPA-NPPB polymorphisms (rs632793, rs198388 and rs198389) were associated with reduced risk of LVD in CAD patients with HLP.
|
25400811 |
2014 |
|
rs387906567
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have used adenovirus-mediated gene transfer in apolipoprotein (apo)E(-/-) mice to elucidate the molecular etiology of a dominant form of type III hyperlipoproteinemia (HLP) caused by the R142C substitution in apoE4.
|
20861163 |
2011 |
|
rs769455
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This analysis revealed an apoE2/E2 (arginine 145 to cysteine) mutation, previously reported to be a rare cause of type III HLP in 5 patients of African descent.
|
16690468 |
2006 |
|
rs121918397
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study examined whether apoE2 Sendai (Arg(145) Pro) was functionally different from type III HLP-producing apoE variants by expressing apoE3, apoE2 (Arg(158) Cys), apoE1 (Arg(146) Glu), a dominant apoE variant, and apoE2 Sendai (Arg(145) Pro) in the baculovirus system.
|
11181800 |
2001 |
|
rs879254693
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recessive type III HLP is caused by apoE2 (Arg(158) Cys), a mutant with diminished low-density lipoprotein (LDL) receptor binding but halfnormal heparin binding.
|
11181800 |
2001 |
|
rs118204057
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It has previously been estimated that due to genetic "founder effects," 97% of lipoprotein lipase (LPL) gene alleles conferring type I hyperlipoproteinemia (HLP) in French Canadians encode one of the following mutant LPL forms: Gly188-->Glu, Pro207-->Leu, or Asp250-->Asn.
|
7706936 |
1995 |
|
rs5742904
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Forty-three patients with clinically and biochemically unequivocally defined type III hyperlipoproteinemia (HLP) were screened for the presence of the apolipoprotein (apo) B-100 arginine3500-->glutamine mutation.
|
1493642 |
1992 |