|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
|
26036859 |
2016 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
CausalMutation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
BEFREE |
In a large Dutch pedigree carrying the V408M mutation in the low-density lipoprotein (LDL) receptor gene, 161 individuals over seven generations were identified for which FH status and parent of origin of FH were known.
|
21925660 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
CausalMutation
|
CLINVAR |
Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.
|
21475731 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
CausalMutation
|
CLINVAR |
Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality.
|
21925660 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.
|
21722902 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
|
20506408 |
2010 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
BEFREE |
Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.
|
19837725 |
2010 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.
|
19837725 |
2010 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
CausalMutation
|
CLINVAR |
Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.
|
19837725 |
2010 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
CausalMutation
|
CLINVAR |
Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.
|
15256764 |
2004 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
CausalMutation
|
CLINVAR |
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
|
11668627 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
CausalMutation
|
CLINVAR |
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.
|
11139254 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
CausalMutation
|
CLINVAR |
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
|
11196104 |
2000 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay.
|
9727746 |
1998 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
BEFREE |
The characterization of 60% of LDLR mutations in a representative sample of Greek FH heterozygotes provides a basis for the diagnosis of FH through DNA analysis in Greece, by using single-strand conformation polymorphism analysis followed by allele-specific oligonucleotide hybridization (exon 6 mutations) or restriction endonuclease analysis (C152R, V408M).
|
9544850 |
1998 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.
|
9763532 |
1998 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.
|
7649549 |
1995 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
BEFREE |
PCR-based methods for detection of two point mutations (V408M and P664L) at the LDL receptor (LDLR) locus, cosegregation analysis using eight restriction fragment length polymorphisms (RFLPs) at the LDLR locus, or the exclusion of FDB confirmed the clinical diagnosis of FH.
|
7583549 |
1995 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics.
|
7718024 |
1994 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
BEFREE |
Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.
|
8478013 |
1993 |
|
Hypercholesterolemia, Familial
|
|
0.760 |
GeneticVariation
|
BEFREE |
Of these, a missense mutation in exon 9 of the LDL-receptor gene, resulting in a substitution of Met for Val408, responsible for 15% of FH in Afrikaners, was found in 19 (1.5%) of 1268 FH patients of Dutch descent.
|
7903269 |
1993 |