|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
|
15241806 |
2004 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
|
12436241 |
2002 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
|
11668640 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
|
11668640 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
|
11668627 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
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 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Mutation analysis of exon 3 of the LDL receptor gene in patients with severe hypercholesterolemia.
|
9676383 |
1998 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
GeneticVariation
|
BEFREE |
Sixteen of 17 apparently unrelated individuals heterozygous for FH E80K also were heterozygous for an identical size (239 nucleotide) allele, of polymorphic microsatellite D19S394, located approximately 250 kb away from the LDLR gene.
|
9547893 |
1998 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
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 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.
|
1301940 |
1992 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia.
|
1352322 |
1992 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.
|
1301940 |
1992 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia.
|
1352322 |
1992 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
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 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for the management of patients with familial hypercholesterolemia.
|
25404096 |
2015 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
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 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.
|
24636176 |
2014 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
|
24418289 |
2014 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.
|
23725921 |
2013 |
|
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 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.
|
22364837 |
2012 |
|
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 |