|
rs28942084
|
|
|
0.780 |
GeneticVariation |
BEFREE |
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 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
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.
|
1830890 |
1991 |
|
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
|
|
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
|
|
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 |
|
rs28942078
|
|
A |
0.760 |
GeneticVariation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
rs28942078
|
|
|
0.760 |
GeneticVariation |
BEFREE |
In a large Dutch pedigree carrying the V408M mutation in the low-density lipoprotein (LDL) receptor gene, 161 individuals over seven generations were identified for which FH status and parent of origin of FH were known.
|
21925660 |
2011 |
|
rs28942078
|
|
A |
0.760 |
CausalMutation |
CLINVAR |
Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.
|
21475731 |
2011 |
|
rs28942078
|
|
A |
0.760 |
CausalMutation |
CLINVAR |
Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality.
|
21925660 |
2011 |
|
rs28942078
|
|
A |
0.760 |
GeneticVariation |
CLINVAR |
Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.
|
21722902 |
2011 |
|
rs28942078
|
|
A |
0.760 |
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 |
|
rs28942078
|
|
|
0.760 |
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 |
|
rs28942078
|
|
A |
0.760 |
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 |
|
rs28942078
|
|
A |
0.760 |
CausalMutation |
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 |
|
rs28942078
|
|
C |
0.760 |
GeneticVariation |
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
|
rs28942078
|
|
A |
0.760 |
CausalMutation |
CLINVAR |
Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.
|
15256764 |
2004 |
|
rs28942078
|
|
A |
0.760 |
GeneticVariation |
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
rs28942078
|
|
A |
0.760 |
CausalMutation |
CLINVAR |
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
|
11668627 |
2001 |
|
rs28942078
|
|
A |
0.760 |
CausalMutation |
CLINVAR |
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.
|
11139254 |
2001 |
|
rs28942078
|
|
A |
0.760 |
CausalMutation |
CLINVAR |
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
|
11196104 |
2000 |
|
rs28942078
|
|
T |
0.760 |
GeneticVariation |
CLINVAR |
Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay.
|
9727746 |
1998 |
|
rs28942078
|
|
|
0.760 |
GeneticVariation |
BEFREE |
The characterization of 60% of LDLR mutations in a representative sample of Greek FH heterozygotes provides a basis for the diagnosis of FH through DNA analysis in Greece, by using single-strand conformation polymorphism analysis followed by allele-specific oligonucleotide hybridization (exon 6 mutations) or restriction endonuclease analysis (C152R, V408M).
|
9544850 |
1998 |