×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
1301956 1992
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
CLINVAR
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
1301956 1992
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
GeneticVariation
CLINVAR
Racial differences in the frequencies of scleroderma-related autoantibodies.
1734910 1992
×
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
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 hypercholesterolaemia in Norway.
9104431 1997
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
9259195 1997
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response.
9767373 1998
×
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
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
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
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
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
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
11668640 2001
×
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
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
GeneticVariation
CLINVAR
Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
15359125 2004
×
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
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
CausalMutation
CLINVAR
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
17539906 2007
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
19446849 2009
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.800
CausalMutation
CLINVAR
Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia.
19538517 2009