rs137929307
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
|
26036859 |
2016 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular-genetic aspects of familial hypercholesterolemia.
|
26238499 |
2015 |
rs137929307
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
|
25463123 |
2014 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
rs137929307
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
rs137929307
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.
|
21865347 |
2011 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
|
21925044 |
2011 |
rs137929307
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
|
20663204 |
2010 |
rs137929307
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
|
20506408 |
2010 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
|
19446849 |
2009 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Evaluation of high-resolution melting analysis for screening the LDL receptor gene.
|
19118540 |
2009 |
rs137929307
|
|
|
0.710 |
GeneticVariation |
BEFREE |
LDLR gene resequencing showed that proband I.G., with the clinical diagnosis of homozygous FH, was homozygous for a mutation in exon 12 (c.1775 G>A, G571E) known to be pathogenic, and heterozygous for a mutation in intron 14 (c.2140 +5G>A).
|
19467224 |
2009 |
rs137929307
|
|
A |
0.710 |
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 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.
|
19026292 |
2008 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening.
|
17196209 |
2008 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Development of a universal chemiluminometric genotyping method for high-throughput detection of 7 LDLR gene mutations in Greek population.
|
18206115 |
2008 |
rs137929307
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.
|
17335829 |
2007 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
|
17539906 |
2007 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia.
|
15864114 |
2005 |
rs137929307
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
|
15241806 |
2004 |
rs137929307
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
|
15241806 |
2004 |