rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland.
|
22859806 |
2012 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
|
20538126 |
2010 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
|
19446849 |
2009 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
|
19446849 |
2009 |
rs750518671
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.
|
19411563 |
2009 |
rs750518671
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.
|
19411563 |
2009 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.
|
19411563 |
2009 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
|
19318025 |
2009 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.
|
18718593 |
2009 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.
|
18325082 |
2008 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.
|
16314194 |
2006 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.
|
16314194 |
2006 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
|
15701167 |
2005 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
rs750518671
|
|
|
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 |
rs750518671
|
|
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 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
|
12436241 |
2002 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |