|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.
|
19026292 |
2008 |
|
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 |
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 |
European workshop on LDL receptor defects. European Working Group on Familial Hypercholesterolaemia.
|
7894220 |
1994 |
|
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 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?
|
16627557 |
2006 |
|
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 |
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 |
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 |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
|
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 |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.
|
17335829 |
2007 |
|
rs121908026
|
|
Hypercholesterolemia, Familial
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
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 |
GeneticVariation
|
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
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 |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
|
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 characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
|
15241806 |
2004 |
|
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 |
GeneticVariation
|
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
|
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 |
GeneticVariation
|
CLINVAR |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |