rs28942080
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
rs28942080
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
|
25463123 |
2014 |
rs28942080
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Mutations that were previously reported to be disease causing were identified in eight of nine individuals with FH and both cell lines (V502M, C146X, E207X, C660X, C646Y, and delG197), but none were found in controls.
|
12406975 |
2002 |
rs28942080
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.
|
2088165 |
1990 |
rs28942080
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.
|
21865347 |
2011 |
rs28942080
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
rs28942080
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
rs28942080
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
|
15241806 |
2004 |
rs28942080
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
rs28942080
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
|
15241806 |
2004 |
rs28942080
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
|
12436241 |
2002 |
rs28942080
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
rs28942080
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.
|
7616128 |
1995 |
rs28942080
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.
|
9974426 |
1999 |