|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
BEFREE |
In an initiated study of Qataris, we observed that 17% of the African-derived genetic subgroup were heterozygotes for a rare Arg145Cys (R145C) variant that functions as a dominant trait with incomplete penetrance associated with type III hyperlipoproteinemia.
|
24239320 |
2014 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia.
|
22481068 |
2012 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.
|
22962670 |
2012 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
BEFREE |
The apolipoprotein E2 (Arg145Cys) mutation causes autosomal dominant type III hyperlipoproteinemia with incomplete penetrance.
|
9157949 |
1997 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu).
|
7635945 |
1995 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
BEFREE |
Restriction isotyping of apolipoprotein E R145C in type III hyperlipoproteinemia.
|
7735921 |
1995 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
BEFREE |
In comparison, beta-VLDL+apoE(Arg142-->Cys), beta-VLDL+apoE(Arg145-->Cys), and beta-VLDL+apoE-Leiden, which are associated with dominant type III hyperlipoproteinemia, bound more poorly.
|
8175773 |
1994 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA.
|
8287539 |
1994 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
BEFREE |
Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia.
|
1352296 |
1992 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene.
|
1361196 |
1992 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.
|
1674745 |
1991 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi).
|
2101409 |
1991 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
BEFREE |
Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.
|
1674745 |
1991 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127.
|
2556398 |
1989 |
|
rs769455
|
|
Hyperlipoproteinemia Type III
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245).
|
2738044 |
1989 |