×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
BEFREE
Mutations in LDLR lead to familial hypercholesterolemia , a common disease affecting 1 in 500 of the human population.
18574243
2008
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.
10441197
1999
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Molecular genetics of familial hypercholesterolemia in Israel.
8882879
1996
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
AlteredExpression
disease
BEFREE
We studied mRNA levels of the LDL-R and HMG CoA reductase genes in response to the HMG CoA reductase inhibitor lovastatin in a time- and dose-dependent fashion in cultured human skin fibroblasts and we devised an in vitro model to study the response to drug therapy in subjects with FH .
8800498
1996
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
LHGDN
Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.
18400033
2008
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
BEFREE
Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism.
8872473
1996
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.
9452095
1998
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.
2799589
1989
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.
19361455
2009
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
Biomarker
disease
BEFREE
Construction and in vitro functional evaluation of a low-density lipoprotein receptor /transferrin fusion protein as a therapeutic tool for familial hypercholesterolemia .
10340553
1999
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Sequence diversity in genes of lipid metabolism.
11381031
2001
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
Biomarker
disease
BEFREE
FH-MC-LDLR demonstrated a physiological response, with virtually no DiI-LDL internalization with excess sterols and an ~2-fold increase in DiI-LDL internalization by Lovastatin compared to FH -MC.
26307169
2015
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
21310417
2011
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
BEFREE
A total of 98 FH subjects and 66 healthy first- and second-degree relatives from 30 families with FH due to the French-Canadian > 10-kilobase deletion of the LDL receptor gene were studied.
8548413
1996
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia.
7649546
1995
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.
17964958
2007
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?
16627557
2006
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
25545329
2015
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.
9664576
1998
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.
20045108
2010
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
CLINVAR
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
23680767
2013
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
GeneticVariation
disease
BEFREE
FH homozygotes with 2 nonfunctional LDL-R alleles had almost 2-fold higher Lp(a) levels than did FH heterozygotes.
10669652
2000
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium.
9212177
1997
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
CausalMutation
disease
CLINVAR
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison.
16343504
2006
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
0.900
Biomarker
disease
BEFREE
Familial hypercholesterolemia (FH ) is a hereditary and usually asymptomatic condition characterized by elevated blood cholesterol and increased risk of premature cardiovascular disease.
30606641
2019