|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting.
|
30293936 |
2019 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.
|
27816806 |
2016 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia.
|
24014831 |
2013 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.
|
23064986 |
2012 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Increased intima-media thickness in carriers of the ldl-receptor defective gene versus noncarriers with newly detected asymptomatic severe hypercholesterolemia.
|
21276076 |
2011 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Array-based resequencing for mutations causing familial hypercholesterolemia.
|
21376320 |
2011 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Update of the Portuguese Familial Hypercholesterolaemia Study.
|
20828696 |
2010 |
|
rs376459828
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Update of the Portuguese Familial Hypercholesterolaemia Study.
|
20828696 |
2010 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
|
20809525 |
2010 |
|
rs376459828
|
|
A |
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 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia.
|
19717150 |
2010 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.
|
18325082 |
2008 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.
|
18096825 |
2008 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.
|
9026534 |
1996 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor.
|
7603991 |
1995 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Disulfide bridges of a cysteine-rich repeat of the LDL receptor ligand-binding domain.
|
7548065 |
1995 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Structures and functions of multiligand lipoprotein receptors: macrophage scavenger receptors and LDL receptor-related protein (LRP).
|
7979249 |
1994 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
rs376459828
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
rs376459828
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
rs376459828
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|