|
rs28941776
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
|
25647241 |
2015 |
|
rs28941776
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
|
25487149 |
2015 |
|
rs28941776
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
rs28941776
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.
|
21865347 |
2011 |
|
rs28941776
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.
|
19837725 |
2010 |
|
rs28941776
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia.
|
19717150 |
2010 |
|
rs28941776
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.
|
19837725 |
2010 |
|
rs28941776
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial.
|
16286607 |
2005 |
|
rs28941776
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
rs28941776
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
|
15241806 |
2004 |
|
rs28941776
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
|
11668640 |
2001 |
|
rs28941776
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
rs28941776
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene.
|
10668928 |
1999 |
|
rs28941776
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands.
|
9544850 |
1998 |
|
rs28941776
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
|
rs28941776
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.
|
1301940 |
1992 |
|
rs28941776
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.
|
2088165 |
1990 |
|
rs28941776
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|