|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
|
7583548 |
1995 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
|
8462973 |
1993 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
|
1464748 |
1992 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
|
1446662 |
1992 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Racial differences in the frequencies of scleroderma-related autoantibodies.
|
1734910 |
1992 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
|
1867200 |
1991 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
|
26036859 |
2016 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
|
25487149 |
2015 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular-genetic aspects of familial hypercholesterolemia.
|
26238499 |
2015 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
|
20663204 |
2010 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
|
20663204 |
2010 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
|
16542394 |
2006 |