×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.
29233637 2019
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia.
28964736 2018
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
28502510 2018
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
28965616 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.
27824480 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
28349240 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
28145427 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.
28391882 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.
28169869 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
The genetic spectrum of familial hypercholesterolemia in the central south region of China.
28235710 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Homozygous familial hypercholesterolemia: Summarized case reports.
28126585 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
28104544 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.
28379029 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
28965616 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
28349240 2017
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.
27247956 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
27765764 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
27784735 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
26036859 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
26892515 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.
27816806 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
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
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
26892515 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
27784735 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
26020417 2016