|
rs573658040
|
|
Hyperlipoproteinemia Type III
|
|
0.100 |
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 |
|
rs573658040
|
|
Hyperlipoproteinemia Type III
|
|
0.100 |
GeneticVariation
|
BEFREE |
This finding supports the notion that although apoE 2*(Arg136-->Cys) mutation is perhaps not sufficient to cause FD itself, the presence of other genetic and/or environmental factors can lead to the phenotypic expression of the disease in the carriers.
|
14535841 |
2003 |
|
rs573658040
|
|
Hyperlipoproteinemia Type III
|
|
0.100 |
GeneticVariation
|
BEFREE |
We described the mutation apo E2* (Arg136 --> Cys) in a family with elevated lipid levels, but there was no confirmation of the connection between this mutation and type III hyperlipoproteinemia or hyperlipoproteinemia at all.
|
11043917 |
2000 |
|
rs573658040
|
|
Hyperlipoproteinemia Type III
|
|
0.100 |
GeneticVariation
|
BEFREE |
As the dominant apoE variants known so far are characterized by more pronounced reductions of heparin binding, we suggest that apoE2 (Arg136 --> Cys) is not associated with dominant expression of type III hyperlipoproteinemia.
|
9548597 |
1998 |
|
rs573658040
|
|
Hyperlipoproteinemia Type III
|
|
0.100 |
GeneticVariation
|
BEFREE |
The apolipoprotein E2 (Arg145Cys) mutation causes autosomal dominant type III hyperlipoproteinemia with incomplete penetrance.
|
9157949 |
1997 |
|
rs573658040
|
|
Hyperlipoproteinemia Type III
|
|
0.100 |
GeneticVariation
|
BEFREE |
Apolipoprotein E2 (Arg-136-->Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia.
|
8682150 |
1996 |
|
rs573658040
|
|
Hyperlipoproteinemia Type III
|
|
0.100 |
GeneticVariation
|
BEFREE |
Restriction isotyping of apolipoprotein E R145C in type III hyperlipoproteinemia.
|
7735921 |
1995 |
|
rs573658040
|
|
Hyperlipoproteinemia Type III
|
|
0.100 |
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 |
|
rs573658040
|
|
Hyperlipoproteinemia Type III
|
|
0.100 |
GeneticVariation
|
BEFREE |
Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia.
|
1352296 |
1992 |
|
rs573658040
|
|
Hyperlipoproteinemia Type III
|
|
0.100 |
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 |