|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
|
10422803 |
1999 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
|
9852677 |
1998 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Possible common mutations in the low density lipoprotein receptor gene in Chinese.
|
9452118 |
1998 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular genetics of familial hypercholesterolaemia in Norway.
|
9104431 |
1997 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
CausalMutation
|
CLINVAR |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular genetics of familial hypercholesterolaemia in Norway.
|
9104431 |
1997 |
|
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 |
Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.
|
7635482 |
1995 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.
|
7550239 |
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 |
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 point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
|
1446662 |
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 |
|
|
|
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
|
28104544 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
|
27784735 |
2016 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical features of bilateral temporal bone xanthoma with LDLR gene mutation.
|
25921077 |
2015 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional characterization and classification of frequent low-density lipoprotein receptor variants.
|
25378237 |
2015 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional characterization and classification of frequent low-density lipoprotein receptor variants.
|
25378237 |
2015 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis.
|
26343872 |
2015 |