Hypertriglyceridemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
The second, carrying both the rare isoforms apoE1(Gly127-->Asp, Arg158-->Cys) and apoE3(Cys112-->Arg, Arg251-->Gly), presented a hypertriglyceridaemia at the age of 10.3.
|
9279208 |
1997 |
Hypertriglyceridemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
None of the family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) and/or APOE*2(Val-236-->Glu) exhibited lipoprotein abnormalities characteristic of familial dysbetalipoproteinaemia, although three family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) showed hypertriglyceridaemia.
|
8156744 |
1994 |
Hypertriglyceridemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Family studies failed to demonstrate cosegregation between the new mutations and severe hyperlipoproteinemia, although a number of carriers for the APOE*3(Cys112-->Arg; Arg251-->Gly) allele and the APOE*1(Arg158-->Cys; Leu252-->Glu) allele expressed hypertriglyceridemia and/or hypercholesterolemia.
|
8488843 |
1993 |
Coronary heart disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Apolipoprotein E R112; R251G: a carboxy-terminal variant found in patients with hyperlipidemia and coronary heart disease.
|
9360638 |
1997 |
Hyperlipidemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In relatives of the proband, APOE R112; R251G was consistently found in subjects with both hyperlipidemia and atherosclerosis.
|
9360638 |
1997 |
Coronary Artery Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Apolipoprotein E R112; R251G: a carboxy-terminal variant found in patients with hyperlipidemia and coronary heart disease.
|
9360638 |
1997 |
Arteriosclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In relatives of the proband, APOE R112; R251G was consistently found in subjects with both hyperlipidemia and atherosclerosis.
|
9360638 |
1997 |
Atherosclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In relatives of the proband, APOE R112; R251G was consistently found in subjects with both hyperlipidemia and atherosclerosis.
|
9360638 |
1997 |
Hyperlipoproteinemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Compound heterozygote for both rare apolipoprotein E1 (Gly127-->Asp, Arg158-->Cys) and E3(Cys112-->Arg, Arg251-->Gly) alleles in a multigeneration pedigree with hyperlipoproteinaemia.
|
9279208 |
1997 |
Coronary Arteriosclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Apolipoprotein E R112; R251G: a carboxy-terminal variant found in patients with hyperlipidemia and coronary heart disease.
|
9360638 |
1997 |
Hyperlipoproteinemia Type III
|
|
0.010 |
GeneticVariation
|
BEFREE |
None of the family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) and/or APOE*2(Val-236-->Glu) exhibited lipoprotein abnormalities characteristic of familial dysbetalipoproteinaemia, although three family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) showed hypertriglyceridaemia.
|
8156744 |
1994 |
Hypercholesterolemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Family studies failed to demonstrate cosegregation between the new mutations and severe hyperlipoproteinemia, although a number of carriers for the APOE*3(Cys112-->Arg; Arg251-->Gly) allele and the APOE*1(Arg158-->Cys; Leu252-->Glu) allele expressed hypertriglyceridemia and/or hypercholesterolemia.
|
8488843 |
1993 |