|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
|
7583548 |
1995 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
|
8462973 |
1993 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
|
1446662 |
1992 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
|
1464748 |
1992 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
|
1867200 |
1991 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
|
2726768 |
1989 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
|
16542394 |
2006 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.
|
11600564 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
|
11668627 |
2001 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.
|
10532689 |
1999 |
|
Hypercholesterolemia result
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Low density lipoprotein increased
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hypercholesterolemia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hypercholesterolemia result
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Low density lipoprotein increased
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
|
0.010 |
GeneticVariation
|
BEFREE |
Despite the analogous internalization defect predicted in ARH and homozygous LDLR:p.(Asn825Lys) lymphocytes, LDL uptake was higher in the former than in the latter.
|
30777337 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
|
0.010 |
GeneticVariation
|
BEFREE |
Peripheral lymphocytes were isolated from two patients with homozygous familial hypercholesterolemia (FH), one homozygote for the mutation N804K (FH(Colmenar)) in exon 17, herein described for the first time, and a compound heterozygote carrying the mutations D280G and G528V, which determine a transport-defective biochemical phenotype.
|
10421221 |
1999 |