|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.
|
7635461 |
1995 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation |
CLINVAR |
Array-based resequencing for mutations causing familial hypercholesterolemia.
|
21376320 |
2011 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
|
20538126 |
2010 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation |
CLINVAR |
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.
|
27050191 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group.
|
11585102 |
2001 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Functional characterization and classification of frequent low-density lipoprotein receptor variants.
|
25378237 |
2015 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation |
CLINVAR |
Genetic analysis of familial hypercholesterolaemia in Western Australia.
|
22883975 |
2012 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.
|
27680772 |
2016 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation |
CLINVAR |
Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.
|
15556094 |
2004 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
|
20663204 |
2010 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
|
11462246 |
2001 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair.
|
11373616 |
2001 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
|
11668627 |
2001 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation |
CLINVAR |
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
|
11668627 |
2001 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemia.
|
24249837 |
2014 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation |
CLINVAR |
Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia.
|
11005141 |
2000 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Molecular characterization of familial hypercholesterolemia in German and Greek patients.
|
14974088 |
2004 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
|
15241806 |
2004 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation |
CLINVAR |
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
|
15241806 |
2004 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
|
16542394 |
2006 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.
|
12417285 |
2002 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation |
CLINVAR |
Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.
|
21146822 |
2011 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Molecular genetics of familial hypercholesterolaemia in Norway.
|
9104431 |
1997 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Molecular genetics of familial hypercholesterolemia in Israel.
|
8882879 |
1996 |
|
| Entrez Id: |
3949 |
| Gene Symbol: |
LDLR |
LDLR
|
Hyperlipoproteinemia Type IIa
|
0.800 |
CausalMutation |
CLINVAR |
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
|
11668640 |
2001 |