|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional characterization and classification of frequent low-density lipoprotein receptor variants.
|
25378237 |
2015 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
CausalMutation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular characterization of familial hypercholesterolemia in German and Greek patients.
|
14974088 |
2004 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
CausalMutation
|
CLINVAR |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular genetics of familial hypercholesterolaemia in Norway.
|
9104431 |
1997 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
|
11668640 |
2001 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
|
20663204 |
2010 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
CausalMutation
|
CLINVAR |
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
|
11668627 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
|
20538126 |
2010 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
|
20538126 |
2010 |
|
Hypercholesterolemia result
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Low density lipoprotein increased
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
|
11668627 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
|
17539906 |
2007 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
Hypercholesterolemia result
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
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 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetics of familial hypercholesterolaemia in Norway.
|
9104431 |
1997 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
|
28104544 |
2017 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical features of bilateral temporal bone xanthoma with LDLR gene mutation.
|
25921077 |
2015 |