|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The current findings are consistent with the conclusion that heterozygotes with familial hypercholesterolemia possess only one functional allele at the LDL receptor locus and that the consequent deficiency of LDL receptors produces the clinical syndrome of heterozygous familial hypercholesterolemia.
|
205553 |
1978 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A mutation of the LDL receptor gene very common among Finnish patients with heterozygous familial hypercholesterolemia (FH) was identified.
|
1634609 |
1992 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Pravastatin in heterozygous familial hypercholesterolemia: low-density lipoprotein (LDL) cholesterol-lowering effect and LDL receptor activity on skin fibroblastS.
|
1658544 |
1991 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have applied the polymerase chain reaction to detect differences in relative amount of allele-specific transcripts of the low density lipoprotein receptor gene in individuals with heterozygous familial hypercholesterolemia (FH).
|
1714719 |
1991 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia.
|
1999337 |
1991 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
To see whether the effect of an inhibitor is related to LDL receptor activity in each patient, pravastatin was administered to 7 FH heterozygotes for 3 months at a daily dose of 10 mg; their mean LDL receptor activities measured before the therapy were 45.0 +/- 9.9% of the normal control.
|
2118022 |
1990 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
Normalization of LDL receptor function by lymphocytes of patients with heterozygous familial hypercholesterolemia after treatment with plasma cholesterol lowering agents.
|
2552800 |
1989 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
Neonatal diagnosis of FH in two fetuses from one family was possible through analyses of their LDLR genes in cord blood samples at delivery.
|
2831865 |
1988 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The diagnosis of heterozygous familial hypercholesterolaemia in three rural South African communities in which hypercholesterolaemia is very prevalent could be confirmed by the measurement of low density lipoprotein (LDL) receptor activity in circulating lymphocytes.
|
2918524 |
1989 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
DNA samples from 70 unrelated UK patients with heterozygous familial hypercholesterolaemia were screened by Southern blot hybridisation with a 5' fragment of the human low density lipoprotein (LDL) receptor cDNA.
|
3572996 |
1987 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
We found a large deletion (more than 10 kilobases) in the gene for the low-density-lipoprotein receptor in 63 percent of French Canadians with heterozygous familial hypercholesterolemia.
|
3627182 |
1987 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.
|
7573037 |
1995 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In a Danish family highly susceptible to ischemic heart disease, hyperlipidemia did not simply cosegregate with a previously undescribed 10 bp deletion in the LDL receptor gene causing heterozygous familial hypercholesterolemia (FH).
|
7586640 |
1995 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.
|
7649549 |
1995 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have identified a substitution of G to A in the first base pair of intron 3 in the LDL receptor gene of an English heterozygous familial hypercholesterolemia (FH) patient.
|
7749829 |
1995 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Comparison of serum lipid levels in 149 heterozygous FH patients, including 79 patients with the FH Helsinki gene and 70 patients with the FH North Karelia gene, grouped according to the PvuII RFLP status of their nonmutated LDL-receptor allele; studies of lovastatin responses in 23 FH patients with different mutation types.
|
7830029 |
1995 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.
|
7937987 |
1994 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.
|
7981713 |
1994 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have applied the denaturing gradient gel electrophoresis (DGGE) technique to detect sequence variations in exon 9 of the low density lipoprotein receptor (LDLR) gene in individuals with heterozygous familial hypercholesterolemia (FH).
|
8314561 |
1993 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
An analysis of LDL-receptor gene was performed on an Italian patient with heterozygous familial hypercholesterolemia.
|
8409767 |
1993 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Influence of specific mutations at the LDL-receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolaemia.
|
8457250 |
1993 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A deletion mutant in the low density lipoprotein receptor gene of a Japanese patient with heterozygous familial hypercholesterolemia was analyzed.
|
8486609 |
1993 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).
|
8589690 |
1995 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the PCR-SSCP analysis, performed as described here, is as sensitive and efficient as DNA sequencing in the ability to identify the sequence variations in the LDL receptor gene of the patients with heterozygous FH of this study.
|
8697568 |
1996 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Finally, this study indicates that the LDLR gene type mutations are a modulator of the magnitude of the increase in plasma TC and LDL-C levels noted among FH heterozygote children.
|
8879444 |
1996 |