rs200727689
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
|
27784735 |
2016 |
rs200727689
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
|
25545329 |
2015 |
rs200727689
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
|
25647241 |
2015 |
rs200727689
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland.
|
22859806 |
2012 |
rs200727689
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Update of the Portuguese Familial Hypercholesterolaemia Study.
|
20828696 |
2010 |
rs200727689
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.
|
19007590 |
2008 |
rs200727689
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
|
17539906 |
2007 |
rs200727689
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.
|
16205024 |
2005 |
rs200727689
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
|
16250003 |
2005 |
rs200727689
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.
|
16205024 |
2005 |
rs200727689
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.
|
15556094 |
2004 |
rs200727689
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.
|
15556094 |
2004 |
rs200727689
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The UMD-LDLR database: additions to the software and 490 new entries to the database.
|
12124988 |
2002 |
rs200727689
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
|
9678702 |
1998 |
rs200727689
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
|
9678702 |
1998 |
rs200727689
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
rs200727689
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
rs200727689
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.
|
8740918 |
1996 |
rs200727689
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Three mutations-del197 (FH-Lithuania), D147H (FH-Sephardic), and stop660 (Lebanese allele)-were found in a total of 66 index cases (34%); these may be regarded as founder mutations in the three respective origin groups.
|
8882879 |
1996 |
rs200727689
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
|
8462973 |
1993 |
rs200727689
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
|
|
|