rs875989906
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.
|
25962062 |
2015 |
rs875989906
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
|
24075752 |
2013 |
rs875989906
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
rs875989906
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
rs875989906
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
|
17094996 |
2007 |
rs875989906
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
|
16250003 |
2005 |
rs875989906
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
|
15359125 |
2004 |
rs875989906
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
rs875989906
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
|
11196104 |
2000 |
rs875989906
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.
|
10090484 |
1999 |
rs875989906
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.
|
10206683 |
1998 |
rs875989906
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Mutation D200Y was found in a single FH family, while mutation E207K was detected in two apparently unrelated Indian families on a new mutual haplotype.
|
9237502 |
1997 |
rs875989906
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Mutation D200Y was found in a single FH family, while mutation E207K was detected in two apparently unrelated Indian families on a new mutual haplotype.
|
9237502 |
1997 |
rs875989906
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group.
|
9409298 |
1997 |
rs875989906
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia.
|
7649546 |
1995 |
rs875989906
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.
|
7573037 |
1995 |
rs875989906
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
rs875989906
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
[Exophthalmos caused by orbital metastasis of prostatic carcinoma].
|
1714262 |
1991 |
rs875989906
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|