rs121918393
|
|
Hyperlipoproteinemia Type III
|
A |
0.830 |
CausalMutation
|
CLINVAR |
|
|
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rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
BEFREE |
Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia.
|
3038959 |
1987 |
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245).
|
2738044 |
1989 |
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127.
|
2556398 |
1989 |
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi).
|
2101409 |
1991 |
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
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 |
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene.
|
1361196 |
1992 |
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA.
|
8287539 |
1994 |
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu).
|
7635945 |
1995 |
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
BEFREE |
Apo E2-Christchurch (Arg136-->Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia.
|
12929622 |
2003 |
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
APOE R136S and p.Leu149del induce autosomal dominant FD and a phenotype indistinguishable from FCHL, respectively.
|
22481068 |
2012 |
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
BEFREE |
R136S carriers showed dysbetalipoproteinemia, while the lipid phenotype of p.Leu149del carriers was IIa or IIb.
|
22481068 |
2012 |