rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.
|
2760205 |
1989 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.
|
2760205 |
1989 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Low density lipoprotein kinetics in a family having defective low density lipoprotein receptors in which hypercholesterolemia is suppressed.
|
2029498 |
1991 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.
|
1319734 |
1992 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia.
|
8096412 |
1993 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
European workshop on LDL receptor defects. European Working Group on Familial Hypercholesterolaemia.
|
7894220 |
1994 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia.
|
7947594 |
1994 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population.
|
8828982 |
1996 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Software and database for the analysis of mutations in the human LDL receptor gene.
|
9016531 |
1997 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias.
|
9654205 |
1998 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada.
|
9484998 |
1998 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias.
|
9654205 |
1998 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
|
10422803 |
1999 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Unusual inheritance of severe primary hypercholesterolemia.
|
10407508 |
1999 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sequence diversity in genes of lipid metabolism.
|
11381031 |
2001 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Increasing the sensitivity of single-strand conformation polymorphism analysis of the LDLR gene mutations in brazilian patients with familial hypercholesterolemia.
|
12113284 |
2002 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The UMD-LDLR database: additions to the software and 490 new entries to the database.
|
12124988 |
2002 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
|
11754108 |
2002 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Magnitude of HDL cholesterol variation after high-dose atorvastatin is genetically determined at the LDL receptor locus in patients with homozygous familial hypercholesterolemia.
|
14512370 |
2003 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
|
14508510 |
2003 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
|
15556092 |
2004 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis.
|
15556093 |
2004 |
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Degradation of the LDL receptor class 2 mutants is mediated by a proteasome-dependent pathway.
|
14993243 |
2004 |