rs28942084
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
rs28942084
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis.
|
26343872 |
2015 |
rs28942084
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
|
23669246 |
2013 |
rs28942084
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
rs28942084
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia.
|
23155708 |
2012 |
rs28942084
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
|
21382890 |
2011 |
rs28942084
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
rs28942084
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Update of the Portuguese Familial Hypercholesterolaemia Study.
|
20828696 |
2010 |
rs28942084
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: application of the CD3/CD28 assay in lymphocytes.
|
19013141 |
2009 |
rs28942084
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.
|
18718593 |
2009 |
rs28942084
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
|
19318025 |
2009 |
rs28942084
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
|
19446849 |
2009 |
rs28942084
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
rs28942084
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
|
15359125 |
2004 |
rs28942084
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
The UMD-LDLR database: additions to the software and 490 new entries to the database.
|
12124988 |
2002 |
rs28942084
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.
|
11031227 |
2000 |
rs28942084
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.
|
9763532 |
1998 |
rs28942084
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
|
7583548 |
1995 |
rs28942084
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada.
|
1493640 |
1992 |
rs28942084
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK.
|
1884514 |
1991 |
rs28942084
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
|
2726768 |
1989 |
rs28942084
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
|
2726768 |
1989 |
rs28942084
|
|
A |
0.780 |
GeneticVariation |
CLINVAR |
|
|
|
rs28942078
|
|
A |
0.760 |
GeneticVariation |
CLINVAR |
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
|
26036859 |
2016 |
rs28942078
|
|
A |
0.760 |
CausalMutation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |