rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Recommendations for the management of patients with familial hypercholesterolemia.
25404096
2015
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.
24636176
2014
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
24418289
2014
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
25053660
2014
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.
23725921
2013
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.
22364837
2012
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
22160468
2012
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
22509010
2012
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
BEFREE
Ninety-seven FH patients (all p.W66G for the LDLR gene mutation and not under lipid-lowering treatment) were recruited and finely phenotyped for DNA methylation analyses at ABCA1 gene locus.
22419126
2012
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.
21600525
2011
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
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
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
17142622
2006
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.
15177124
2004
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
11462246
2001
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.
10882754
2000
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
BEFREE
DNA samples from 25 hypercholesterolemic patients with clinical features of FH and 25 normal controls were analyzed for four known point mutations: W66G (exon 3), E207K (exon 4), E387K (exon 9), and P664L (exon 14), which are those most reported among Indian immigrants in South Africa.
11138612
2000
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
BEFREE
We have then genotyped five markers (D19S413, D19S865, D19S221, D19S914, D19S586) in 102 heterozygotes (38 del > 15kb; 36 W66G; 16 C646Y; 12 E207K), two compound heterozygotes (del > 15kb/W66G ; del > 15kb/C646Y) and seven homozygotes (three del > 15 kb; three W66G : one E207K) with FH unrelated to the first and second degree.
10208489
1999
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.
10090484
1999
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
10422803
1999
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Possible common mutations in the low density lipoprotein receptor gene in Chinese.
9452118
1998
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
9852677
1998
rs121908025
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.860
GeneticVariation
UNIPROT
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
9259195
1997