|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
|
25647241 |
2015 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
|
23669246 |
2013 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
|
21418584 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
|
21418584 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutation screening in patients for familial hypercholesterolaemia (ADH).
|
19843101 |
2010 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.
|
20236128 |
2010 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.
|
18718593 |
2009 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
|
17142622 |
2006 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.
|
16314194 |
2006 |
|
Hypercholesterolemia, Familial
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.
|
16314194 |
2006 |
|
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 |