×
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
×
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
Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.
8347689 1993
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.
24529145 2014
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias.
9654205 1998
×
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
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
Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
10980548 2000
×
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
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
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.
10882754 2000
×
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
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
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
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
11462246 2001
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.
7649549 1995
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.
9143924 1997
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online.
10447263 1999
×
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
Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia.
7649546 1995
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
9678702 1998
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.
7635482 1995
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors.
3955657 1986
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.
7573037 1995