|
rs28942084
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Therefore, the coexistence of Pro685Leu and Trp577Term mutations in LDLR is a novel compound heterozygosis in Chinese patients and may lead to a severe FH phenotype.
|
30112042 |
2018 |
|
rs28942084
|
|
|
0.880 |
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
|
|
|
0.880 |
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
|
|
|
0.880 |
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
|
|
|
0.880 |
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
|
|
|
0.880 |
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
|
|
|
0.880 |
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
|
|
|
0.880 |
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 |
|
rs121908025
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.860 |
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
|
|
|
0.860 |
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
|
|
|
0.860 |
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 |
|
rs28942078
|
|
|
0.840 |
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
|
|
|
0.840 |
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
|
|
|
0.840 |
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 |
|
rs28942078
|
|
|
0.840 |
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 |
|
rs138947766
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Therefore, the coexistence of Pro685Leu and Trp577Term mutations in LDLR is a novel compound heterozygosis in Chinese patients and may lead to a severe FH phenotype.
|
30112042 |
2018 |
|
rs138947766
|
|
|
0.830 |
GeneticVariation |
BEFREE |
An optimised version of the fusion protein was used to analyse the effect of an LDL receptor mutation (W556S) found in FH patients and characterised as transport defective.
|
11781697 |
2001 |
|
rs138947766
|
|
|
0.830 |
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 |
|
rs368657165
|
|
|
0.820 |
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 |
|
rs879255000
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The LDLR mutation p.W556R is a frequent and severe defect for FH.
|
20129366 |
2009 |
|
rs879255000
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.
|
18339137 |
2008 |
|
rs373822756
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The screening of 420 familial hypercholesterolemia heterozygotes suggests that C127R and D200G account for about 0.7% of mutations causing familial hypercholesterolemia in Croatia.
|
11506462 |
2001 |