|
rs879254597
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.
|
22390909 |
2012 |
|
rs879254597
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
The epidermal growth factor homology domain of the LDL receptor drives lipoprotein release through an allosteric mechanism involving H190, H562, and H586.
|
18677035 |
2008 |
|
rs879254597
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
rs879254597
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
|
rs879254597
|
|
|
0.720 |
GeneticVariation |
BEFREE |
E207K mutation of low-density lipoprotein receptor in familial hypercholesterolemia.
|
15124051 |
2004 |
|
rs879254597
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
|
11754108 |
2002 |
|
rs879254597
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
[Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg].
|
11642133 |
2001 |
|
rs879254597
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
rs879254597
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We have then genotyped five markers (D19S413, D19S865, D19S221, D19S914, D19S586) in 102 heterozygotes (38 del > 15kb; 36 W66G; 16 C646Y; 12 E207K), two compound heterozygotes (del > 15kb/W66G; del > 15kb/C646Y) and seven homozygotes (three del > 15 kb; three W66G: one E207K) with FH unrelated to the first and second degree.
|
10208489 |
1999 |
|
rs879254597
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response.
|
9767373 |
1998 |
|
rs879254597
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
rs879254597
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
rs879254597
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.
|
2799589 |
1989 |