|
rs140241383
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
|
27765764 |
2016 |
|
rs140241383
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Universal Screening for Familial Hypercholesterolemia in Children.
|
26361156 |
2015 |
|
rs140241383
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
|
25463123 |
2014 |
|
rs140241383
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Mutation detection in Croatian patients with familial hypercholesterolemia.
|
23130880 |
2013 |
|
rs140241383
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
rs140241383
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
rs140241383
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.
|
19837725 |
2010 |
|
rs140241383
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.
|
19837725 |
2010 |
|
rs140241383
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Among them V408M, G528D, C6W and S265R account for 73% of heterozygous FH probands.
|
15200491 |
2004 |
|
rs140241383
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.
|
15015036 |
2004 |
|
rs140241383
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
This report describes seven LDLR gene mutations accounting for FH in Northwestern Greece (81T>G, 517T>C, 858C>A, 1285G>A, 1352T>C, 1646G>A and 1775G>A) and their geographic distribution.
|
11317361 |
2001 |
|
rs140241383
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
|
11462246 |
2001 |
|
rs140241383
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands.
|
9544850 |
1998 |
|
rs140241383
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
|
rs140241383
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
rs140241383
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |