|
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 |
Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.
|
7635482 |
1995 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
|
24418289 |
2014 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.
|
7550239 |
1995 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.
|
22364837 |
2012 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Possible common mutations in the low density lipoprotein receptor gene in Chinese.
|
9452118 |
1998 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
|
Hypercholesterolemia result
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
|
Ischemic stroke
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Molecular genetics of familial hypercholesterolaemia in Norway.
|
9104431 |
1997 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
|
Eyelid Xanthoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country.
|
10657581 |
2000 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
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 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
|
20538126 |
2010 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
|
11196104 |
2000 |
|
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 |