|
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 |
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 |
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
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Based on the genetic mutation, the FH subjects were divided into 2 groups, K790X, (n=20) and P664L, (n=5), and their LDLR activities was measured by this method, which was found to be 55.3+/-8.9% and 63.9+/-13.8%, respectively, of that of the control group (n=15).
|
19013141 |
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 |
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
|
19318025 |
2009 |
|
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 |
GeneticVariation |
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
rs28942084
|
|
|
0.780 |
GeneticVariation |
BEFREE |
The most common mutations were K790X (19.5%), P664L (6.0%), FH-Tonami-1 (6.0%), IVS15-3C>A (5.5%) and FH-Tonami-2 (4.5%), whereas the other mutations were rare.
|
12417285 |
2002 |
|
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
|
|
|
0.780 |
GeneticVariation |
BEFREE |
PCR-based methods for detection of two point mutations (V408M and P664L) at the LDL receptor (LDLR) locus, cosegregation analysis using eight restriction fragment length polymorphisms (RFLPs) at the LDLR locus, or the exclusion of FDB confirmed the clinical diagnosis of FH.
|
7583549 |
1995 |
|
rs28942084
|
|
|
0.780 |
GeneticVariation |
BEFREE |
The proline664 to leucine mutations was previously identified in an FH homozygote of Asian Indian origin and later identified in patients from London.
|
8478013 |
1993 |
|
rs28942084
|
|
|
0.780 |
GeneticVariation |
BEFREE |
The proline664-leucine low density lipoprotein (LDL)-receptor mutation was detected in four apparently unrelated Indian FH families in South Africa.
|
1464748 |
1992 |
|
rs28942084
|
|
|
0.780 |
GeneticVariation |
BEFREE |
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 |
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 |