|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
|
25647241 |
2015 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
|
25487149 |
2015 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.
|
19026292 |
2008 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
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 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene.
|
18263977 |
2008 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.
|
17335829 |
2007 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
|
17539906 |
2007 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?
|
16627557 |
2006 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
|
15556092 |
2004 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis.
|
15556093 |
2004 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Degradation of the LDL receptor class 2 mutants is mediated by a proteasome-dependent pathway.
|
14993243 |
2004 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
|
15241806 |
2004 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Magnitude of HDL cholesterol variation after high-dose atorvastatin is genetically determined at the LDL receptor locus in patients with homozygous familial hypercholesterolemia.
|
14512370 |
2003 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
|
14508510 |
2003 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Increasing the sensitivity of single-strand conformation polymorphism analysis of the LDLR gene mutations in brazilian patients with familial hypercholesterolemia.
|
12113284 |
2002 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The UMD-LDLR database: additions to the software and 490 new entries to the database.
|
12124988 |
2002 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
|
11754108 |
2002 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sequence diversity in genes of lipid metabolism.
|
11381031 |
2001 |