×
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
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
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
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
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
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
19319977 2009
×
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: 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
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
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
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
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
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
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
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
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.
10090484 1999
×
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: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.
10532689 1999
×
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
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
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
Possible common mutations in the low density lipoprotein receptor gene in Chinese.
9452118 1998
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.
9452094 1998
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.
9452095 1998
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
UNIPROT
Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. Mutations in brief no. 194. Online.
10660340 1998