|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
|
25487149 |
2015 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
|
Familial hypercholesterolemia - homozygous
|
|
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 molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
|
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 |
GeneticVariation
|
CLINVAR |
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
|
21418584 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
|
21418584 |
2011 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
|
21418584 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
|
17094996 |
2007 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
|
12436241 |
2002 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
|
12436241 |
2002 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
|
12436241 |
2002 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.
|
9664576 |
1998 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.
|
9664576 |
1998 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.
|
9664576 |
1998 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.
|
1301940 |
1992 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.
|
2088165 |
1990 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.
|
2088165 |
1990 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.
|
2088165 |
1990 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia.
|
4061492 |
1985 |