|
rs28942078
|
|
A |
0.760 |
GeneticVariation |
CLINVAR |
Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.
|
9763532 |
1998 |
|
rs28942078
|
|
A |
0.760 |
GeneticVariation |
CLINVAR |
Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.
|
7649549 |
1995 |
|
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
|
|
A |
0.760 |
GeneticVariation |
CLINVAR |
Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics.
|
7718024 |
1994 |
|
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 |
|
rs28942078
|
|
A |
0.760 |
GeneticVariation |
CLINVAR |
Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.
|
8478013 |
1993 |
|
rs28942078
|
|
A |
0.760 |
GeneticVariation |
CLINVAR |
Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.
|
2569482 |
1989 |
|
rs28942078
|
|
A |
0.760 |
CausalMutation |
CLINVAR |
Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.
|
2569482 |
1989 |
|
rs28942078
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121908025
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
|
16542394 |
2006 |
|
rs121908025
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
|
12553167 |
2002 |
|
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
|
|
G |
0.750 |
GeneticVariation |
CLINVAR |
Mutation analysis of exon 3 of the LDL receptor gene in patients with severe hypercholesterolemia.
|
9676383 |
1998 |
|
rs121908025
|
|
G |
0.750 |
GeneticVariation |
CLINVAR |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
|
rs121908025
|
|
G |
0.750 |
GeneticVariation |
CLINVAR |
Molecular genetics of familial hypercholesterolaemia in Norway.
|
9104431 |
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 |
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 |
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 |
|
rs121908025
|
|
G |
0.750 |
GeneticVariation |
CLINVAR |
The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark.
|
8645371 |
1996 |
|
rs121908025
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia.
|
8098448 |
1993 |
|
rs121908025
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Common low-density lipoprotein receptor mutations in the French Canadian population.
|
2318961 |
1990 |
|
rs121908025
|
|
G |
0.750 |
GeneticVariation |
CLINVAR |
Common low-density lipoprotein receptor mutations in the French Canadian population.
|
2318961 |
1990 |
|
rs121908025
|
|
C |
0.750 |
CausalMutation |
CLINVAR |
|
|
|