|
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 |
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 |
Software and database for the analysis of mutations in the human LDL receptor gene.
|
9016531 |
1997 |
|
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 |
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 |
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 |
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 |
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 |
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 |