|
rs28942084
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Based on the genetic mutation, the FH subjects were divided into 2 groups, K790X, (n=20) and P664L, (n=5), and their LDLR activities was measured by this method, which was found to be 55.3+/-8.9% and 63.9+/-13.8%, respectively, of that of the control group (n=15).
|
19013141 |
2009 |
|
rs28942084
|
|
|
0.780 |
GeneticVariation |
BEFREE |
The most common mutations were K790X (19.5%), P664L (6.0%), FH-Tonami-1 (6.0%), IVS15-3C>A (5.5%) and FH-Tonami-2 (4.5%), whereas the other mutations were rare.
|
12417285 |
2002 |
|
rs28942084
|
|
|
0.780 |
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 |
|
rs28942084
|
|
|
0.780 |
GeneticVariation |
BEFREE |
The proline664 to leucine mutations was previously identified in an FH homozygote of Asian Indian origin and later identified in patients from London.
|
8478013 |
1993 |
|
rs28942084
|
|
|
0.780 |
GeneticVariation |
BEFREE |
The proline664-leucine low density lipoprotein (LDL)-receptor mutation was detected in four apparently unrelated Indian FH families in South Africa.
|
1464748 |
1992 |
|
rs28942084
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada.
|
1493640 |
1992 |
|
rs28942084
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK.
|
1884514 |
1991 |
|
rs28942084
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.
|
1830890 |
1991 |
|
rs28942078
|
|
|
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 |
|
rs28942078
|
|
|
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 |
|
rs28942078
|
|
|
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 |
|
rs28942078
|
|
|
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 |
|
rs28942078
|
|
|
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 |
|
rs28942078
|
|
|
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 |
|
rs121908025
|
|
|
0.750 |
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
|
|
|
0.750 |
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
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The transport-defective W556S mutation and the W23X and W66G mutations seem to account for about 40% of the LDL receptor defects in Danish families with FH.
|
9180246 |
1997 |
|
rs121908025
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Association of an exon 3 mutation (Trp66-->Gly) of the LDL receptor with variable expression of familial hypercholesterolemia in a French Canadian family.
|
9066982 |
1997 |
|
rs121908025
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Comparison of the mean lipid concentrations (unadjusted and adjusted for age), including serum total cholesterol and LDL-cholesterol, showed no significant differences between the two groups of FH heterozygote probands (cholesterol: 10.7 mmol/l vs. 10.7 mmol/l) and between the probands and 16 and 22 non-proband family members with the Trp23-stop (cholesterol: 10.1 mmol/l) ad Trp66-Gly (cholesterol: 10.7 mmol/l) mutations, respectively.
|
8645371 |
1996 |
|
rs121908031
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A similar effect was detected in familial hypercholesterolaemia (FH) patients with the p.C681X mutation of LDL-receptor (LDLR).
|
21920719 |
2012 |
|
rs368657165
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The analysis of three heterozygous variants with a single point mutation within the low-density lipoprotein binding domain allowed us to classify the c.806G>A variant as nonpathogenic, and c.862G>A and c.895G>A variants as causative of FH.
|
21990180 |
2012 |
|
rs140241383
|
|
|
0.720 |
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 |
|
rs879254558
|
|
|
0.720 |
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 |
|
rs879254842
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Two novel D151Y and M391T LDLR mutations causing LDLR transport defects in Thai patients with familial hypercholesterolemia.
|
20599862 |
2010 |
|
rs121908031
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In this study we characterize the spectrum of the mutations causing FH in Lebanon: we confirm the very high frequency of the LDLR p.Cys681X mutation that accounts for 81.5 % of the FH Lebanese probands recruited and identify other less frequent mutations in the LDLR.
|
19319977 |
2009 |