×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
1867200 1991
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects.
8664907 1996
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
8462973 1993
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).
8168830 1994
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
22160468 2012
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia.
11298688 2001
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
1446662 1992
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
25545329 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.
7635461 1995
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
10422803 1999
×
Entrez Id: 348
Gene Symbol: APOE
APOE
Hyperlipoproteinemia Type IIa
0.600
GeneticVariation
UNIPROT
APOE p.Leu167del mutation in familial hypercholesterolemia.
24267230 2013
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
22509010 2012
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
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
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.
10978268 2000
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Common low-density lipoprotein receptor mutations in the French Canadian population.
2318961 1990
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
7583548 1995
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.
3263645 1988
×
Entrez Id: 348
Gene Symbol: APOE
APOE
Hyperlipoproteinemia Type IIa
0.600
GeneticVariation
UNIPROT
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
22949395 2013
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
17347910 2007
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
9852677 1998
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Functional characterization and classification of frequent low-density lipoprotein receptor variants.
25378237 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
17142622 2006
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
19318025 2009
×
Entrez Id: 348
Gene Symbol: APOE
APOE
Hyperlipoproteinemia Type IIa
0.600
GeneticVariation
UNIPROT
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
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
1464748 1992