|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.
|
26927322 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
|
26020417 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Effect of Statin Therapy in 4-Year-Old Dichorionic Diamniotic Twins with Familial Hypercholesterolemia Showing Multiple Xanthomas.
|
26510755 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
|
26802169 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
|
27294413 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.
|
27680772 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.
|
25911074 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
|
26020417 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations.
|
26632531 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.
|
27816806 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
|
27783906 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort.
|
26723464 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
|
27765764 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
|
26802169 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
|
27765764 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
|
27831900 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
|
25545329 |
2015 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
|
25647241 |
2015 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
|
25487149 |
2015 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.
|
28932795 |
2015 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and clinical correlates of familial hypercholesterolemia founder mutations in the general population.
|
25437892 |
2015 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
LDLR gene synonymous mutation c.1813C>T results in mRNA splicing variation in a kindred with familial hypercholesterolaemia.
|
25624525 |
2015 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Pregnancy in homozygous familial hypercholesterolemia--Importance of LDL-apheresis.
|
25936317 |
2015 |