rs28942084
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
|
25487149 |
2015 |
rs28942084
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.
|
22390909 |
2012 |
rs28942084
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Update of the Portuguese Familial Hypercholesterolaemia Study.
|
20828696 |
2010 |
rs28942084
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.710 |
CausalMutation
|
CLINVAR |
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 |
rs28942084
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
rs28942084
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject.
|
2920733 |
1989 |
rs28942084
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
|
1464748 |
1992 |
rs28942084
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.710 |
CausalMutation
|
CLINVAR |
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
|
23680767 |
2013 |
rs28942084
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
|
25647241 |
2015 |
rs28942084
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
|
21382890 |
2011 |
rs28942084
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.
|
1830890 |
1991 |
rs121908025
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
|
23669246 |
2013 |
rs121908025
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Genealogical analysis as a new approach for the investigation of drug intolerance heritability.
|
24281370 |
2014 |
rs121908025
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.710 |
CausalMutation
|
CLINVAR |
The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark.
|
8645371 |
1996 |
rs121908025
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations.
|
15528480 |
2005 |
rs121908025
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.710 |
CausalMutation
|
CLINVAR |
LDL-receptor mutations in Europe.
|
15523646 |
2004 |
rs121908025
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec.
|
9272705 |
1997 |
rs121908025
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Because FH is caused by mutations at the low-density-lipoprotein-gene locus, we compared plasma-cholesterol concentrations in 21 FH homozygotes with either the greater than 10 kb deletion (promoter region and exon 1) (11 subjects) or the exon 3 missense (trp66-->gly) mutation (10 subjects) of the low-density-lipoprotein gene.
|
8098448 |
1993 |
rs121908025
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia.
|
8054972 |
1994 |
rs121908025
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Common low-density lipoprotein receptor mutations in the French Canadian population.
|
2318961 |
1990 |
rs879254867
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
|
21382890 |
2011 |
rs879254867
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
|
11196104 |
2000 |
rs879254867
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
rs879254867
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
rs879254867
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay.
|
9727746 |
1998 |