|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.
|
18279815 |
2008 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
|
25647241 |
2015 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Unusual inheritance of severe primary hypercholesterolemia.
|
10407508 |
1999 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sequence diversity in genes of lipid metabolism.
|
11381031 |
2001 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
|
11754108 |
2002 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Software and database for the analysis of mutations in the human LDL receptor gene.
|
9016531 |
1997 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.
|
1319734 |
1992 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.
|
2760205 |
1989 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
|
25487149 |
2015 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.
|
2760205 |
1989 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
|
14508510 |
2003 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
|
17539906 |
2007 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population.
|
8828982 |
1996 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene.
|
18263977 |
2008 |