rs879254558
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward.
|
27578104 |
2017 |
rs879254558
|
|
C |
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 |
rs879254558
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
|
21925044 |
2011 |
rs879254558
|
|
C |
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 |
rs879254558
|
|
G |
0.720 |
GeneticVariation |
CLINVAR |
Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population.
|
20019594 |
2010 |
rs879254558
|
|
|
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 |
rs879254558
|
|
C |
0.720 |
CausalMutation |
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 |
rs879254558
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The characterization of 60% of LDLR mutations in a representative sample of Greek FH heterozygotes provides a basis for the diagnosis of FH through DNA analysis in Greece, by using single-strand conformation polymorphism analysis followed by allele-specific oligonucleotide hybridization (exon 6 mutations) or restriction endonuclease analysis (C152R, V408M).
|
9544850 |
1998 |
rs879254558
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
The characterization of 60% of LDLR mutations in a representative sample of Greek FH heterozygotes provides a basis for the diagnosis of FH through DNA analysis in Greece, by using single-strand conformation polymorphism analysis followed by allele-specific oligonucleotide hybridization (exon 6 mutations) or restriction endonuclease analysis (C152R, V408M).
|
9544850 |
1998 |
rs879254558
|
|
G |
0.720 |
GeneticVariation |
CLINVAR |
Ten LDL receptor mutants explain one third of familial hypercholesterolemia in a German sample.
|
7489239 |
1995 |
rs879254558
|
|
C |
0.720 |
GeneticVariation |
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
rs879254558
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |