rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
|
25461735 |
2015 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
|
25647241 |
2015 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
rs373822756
|
|
G |
0.720 |
GeneticVariation |
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
rs373822756
|
|
G |
0.720 |
GeneticVariation |
CLINVAR |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
|
19446849 |
2009 |
rs373822756
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
|
19318025 |
2009 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Vascular calcifications in homozygote familial hypercholesterolemia.
|
18239150 |
2008 |
rs373822756
|
|
G |
0.720 |
GeneticVariation |
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Molecular modeling of D151Y and M391T mutations in the LDL receptor.
|
18929537 |
2008 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.
|
18279815 |
2008 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
|
17539906 |
2007 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
|
17094996 |
2007 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.
|
16159606 |
2005 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
LDL-receptor mutations in Europe.
|
15523646 |
2004 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
|
15241806 |
2004 |
rs373822756
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The study was performed with 70 carriers of two LDL-receptor mutations common in northern Italy (i.e., the 4 bp insertion in exon 10 known as FH-Savona and the D200G missense mutation in the exon 4, known as FH-Padova 1) and 100 healthy controls.
|
11700734 |
2001 |
rs373822756
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The screening of 420 familial hypercholesterolemia heterozygotes suggests that C127R and D200G account for about 0.7% of mutations causing familial hypercholesterolemia in Croatia.
|
11506462 |
2001 |
rs373822756
|
|
G |
0.720 |
GeneticVariation |
CLINVAR |
Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.
|
10978268 |
2000 |
rs373822756
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
|
11196104 |
2000 |
rs373822756
|
|
G |
0.720 |
GeneticVariation |
CLINVAR |
The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.
|
10208479 |
1999 |
rs373822756
|
|
G |
0.720 |
GeneticVariation |
CLINVAR |
Molecular genetics of familial hypercholesterolaemia in Norway.
|
9104431 |
1997 |
rs373822756
|
|
G |
0.720 |
GeneticVariation |
CLINVAR |
Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia.
|
7649546 |
1995 |
rs373822756
|
|
G |
0.720 |
GeneticVariation |
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |